id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
gaucher:10389590 | Anaphylactoid reaction to imiglucerase, but not to alglucerase, in a type I Gaucher patient. | [
"Imiglucerase, the recombinantly produced enzyme, is gradually replacing the human placental derived alglucerase in the treatment of gaucher patients. We describe the first case, to the best of our knowledge, of an anaphylactoid reaction to imiglucerase in a patient who tolerated alglucerase. The patient was diagno... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Imiglucerase, the recombinantly produced enzyme\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"gaucher",
"anaphylactoid reaction to imiglucerase"
] | null | [
"hepatosplenomegaly",
"marked splenomegaly",
"recurrent bleeding episodes",
"flushing",
"cough",
"tachycardia",
"palpitation",
"chest pain",
"excessive sweating",
"reoccurred",
"mild rash"
] | [
"Imiglucerase, the recombinantly produced enzyme",
"replacing the human placental derived alglucerase",
"tolerated alglucerase",
"treatment with imiglucerase",
"3 months of treatment",
"Substitution with alglucerase",
"premedicated with benadryl",
"imiglucerase production",
"replacement enzyme"
] | null | [
"anemia",
"thrombocytopenia"
] | [
"Immediate skin tests to alglucerase, imiglucerase and gelatin were negative",
"IgG against alglucerase was undetectable",
"sensitivity to imiglucerase but not to alglucerase",
"production of alglucerase"
] |
gaucher:10374775 | Pulmonary pathology in Gaucher's disease. | [
"Gaucher's disease is a familial storage disease caused by a deficiency of the enzyme glucocerebrosidase. Pulmonary involvement is considered rare in Gaucher's disease, especially type I. Sporadic case reports have shown various types of lung involvement, but the spectrum of pulmonary pathology in Gaucher's disease... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"familial storage disease",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"type I Gaucher's disease",
"type II",
"Gaucher's disease"
] | null | [
"Pulmonary involvement",
"lung involvement",
"pulmonary pathology",
"massive interstitial thickening of alveolar septa",
"Pulmonary involvement"
] | null | [
"Jerusalem",
"Israel"
] | [
"deficiency of the enzyme glucocerebrosidase"
] | [
"not intrinsic to the lungs"
] |
gaucher:10358451 | [Gaucher's disease in a 22-year-old female patient]. | [
"Gaucher's disease is a sphingolipidosis with a genetically conditioned deficiency of cerebroside-beta-glucosidase which can be encountered in everyday practice and not only in paediatrics. The authors submit the case-history of a 22-year-old Ukrainian patient with a fully developed type 1 Gaucher disease, and a br... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"sphingolipidosis",
"type 1 Gaucher disease"
] | [
"genetically conditioned"
] | null | null | [
"Ukrainian",
"Czech Republic"
] | [
"deficiency of cerebroside-beta-glucosidase"
] | null |
gaucher:10352942 | Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? | [
"In recent years there has been increased recognition of a severe perinatal lethal form of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase. We previously reported a case of severe type 2 Gaucher disease which was seen in a medical center in Rotterdam and now present three new cases from tw... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In recent years there has been increased recognition of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe perinatal lethal form of Gaucher disease\n ... | [
"severe perinatal lethal form of Gaucher disease",
"severe type 2 Gaucher disease",
"lethal type 2 Gaucher disease",
"lethal type 2 Gaucher disease",
"collodion babies",
"hydrops of unknown cause"
] | [
"inherited deficiency of lysosomal glucocerebrosidase",
"two novel mutations, H311R and V398F, located in exons 8 and 9, respectively"
] | null | null | [
"Rotterdam"
] | null | null |
gaucher:10340647 | Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. | [
"The finding of extensive lytic lesions in the mandible of a 19-year-old Ashkenazi Jewish woman led to the diagnosis of Type 1 Gaucher disease. She had extensive skeletal involvement, marked hepatosplenomegaly, and deficient acid beta-glucosidase activity. Mutation analysis identified heteroallelism for acid beta-g... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The finding of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n extensive lytic lesions in the mandible\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"Type 1 Gaucher disease",
"Type 1 Gaucher"
] | [
"heteroallelism for acid beta-glucosidase mutations N370S and P401L, the latter being a novel missense mutation in exon 9",
"Expression of the P401L allele",
"mild phenotype for the proposita's N370S/P401L genotype"
] | [
"extensive lytic lesions in the mandible",
"extensive skeletal involvement",
"marked hepatosplenomegaly",
"severe diffuse skeletal disease and organ involvement",
"lytic mandibular lesions",
"osteomyelitis",
"pathologic fracture",
"tooth loss"
] | null | [
"Ashkenazi Jewish"
] | [
"deficient acid beta-glucosidase activity",
"enzyme with a reduced catalytic activity (specific activity based on cross-reacting immunological material approximately 0.21), which was similar to that of the mild N370S mutant enzyme"
] | null |
gaucher:10335043 | [Diagnostic difficulties in Gaucher disease: report of two cases]. | [
"Diagnostic difficulties of Gaucher disease, a disorder resulted from a deficient activity of glucocerebrosidase is reported. Gaucher disease was described in the 16 year old male, 5 years after manifestation of the very first symptoms (fracture and osteomyelitis). At the age of 14, the cirrhosis due to viral hepat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Diagnostic difficulties of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Gaucher disease",
"Gaucher disease",
"cirrhosis due to viral hepatitis",
"malignant neoplasm of thyroid, the reproductive organs"
] | null | [
"fracture and osteomyelitis)",
"splenomegaly",
"cancer of indistinguishable primary focus with metastases in the liver"
] | null | null | [
"deficient activity of glucocerebrosidase",
"determination of beta-glucosidase activity in peripheral white blood cells",
"chitotriosidase activity"
] | [
"not associated with the earlier osseous disorders"
] |
gaucher:10223617 | Enzyme therapy in Gaucher disease type 2: an autopsy case. | [
"A Japanese patient with Gaucher disease type 2 was treated with enzyme therapy, alglucerase, from 7 to 22 months of age. Whereas hematologic parameters were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure at age 22 months... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Gaucher disease type 2",
"severe varients of Gaucher disease"
] | null | [
"hepatosplenomegaly was alleviated",
"died",
"respiratory failure"
] | [
"treated with enzyme therapy, alglucerase, from 7 to 22 months of age",
"enzyme therapy"
] | [
"Japanese"
] | [
"hematologic parameters were normalized"
] | [
"no improvement in neurologic symptoms",
"does not prevent long-term respiratory and central nervous system involvement"
] |
gaucher:10221620 | Pregnancy in Gaucher disease. | [
"An 18-year old woman with type I Gaucher disease and two uncomplicated pregnancies is described. Although she experienced one miscarriage and pregnancy was associated with exaggeration of the clinical symptoms, leading to the diagnosis of the disorder, both her 2nd and 3rd pregnancies were uneventful and deteriora... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 18-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"type I Gaucher disease",
"pregnancy",
"type I Gaucher disease"
] | null | [
"uncomplicated pregnancies",
"miscarriage",
"pregnancy",
"exaggeration of the clinical symptoms"
] | null | null | null | [
"uneventful",
"deterioration of her clinical situation was not observed"
] |
gaucher:10197147 | Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response. | [
"We studied the auditory brainstem response (ABR) and neuropathology in a female infant who died at six months of age because of typical infantile Gaucher's disease. The patient was hospitalized for hepatosplenomegaly and failure to thrive. Her ABR showed only waves I and II. The neuropathological study disclosed t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n auditory brainstem response (ABR)\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"infantile Gaucher's disease"
] | null | [
"died",
"hepatosplenomegaly",
"failure to thrive",
"only waves I and II",
"disappearance of wave III and later waves of ABR"
] | null | null | null | null |
gaucher:10079781 | Gaucher's disease with valve calcification: possible role of Gaucher cells, bone matrix proteins and integrins. | [
"Gaucher's disease, an autosomal recessive storage disease, leads to deposition of glucocerebrosides in various organs, especially those of the reticuloendothelial system. The heart is not thought to be frequently involved and studies of patients with cardiac involvement have concentrated on myocardial involvement.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"storage disease",
"Gaucher's disease, type IIIc"
] | [
"autosomal recessive"
] | [
"cardiac involvement",
"myocardial involvement",
"prominent cardiac valvular involvement",
"valvular injury"
] | null | null | null | null |
gaucher:10079540 | [Gaucher's disease type I: an infrequent cause of portal hypertension]. | [
"Portal hypertension associated to Gaucher's disease type I with non cirrhotic liver involvement is a very in-equent finding. We report a case of Gaucher's disease type I without cirrhosis in which portal hypertension is the main manifestation. The mechanism of the portal hypertension is discussed in our report and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Portal hypertension\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Gaucher's disease type I",
"Gaucher's disease type I"
] | null | [
"Portal hypertension",
"non cirrhotic liver involvement",
"portal hypertension",
"portal hypertension",
"elevation in hepatic fluid resistance"
] | null | null | null | [
"without cirrhosis"
] |
gaucher:10079102 | Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. | [
"Gaucher disease is an autosomal recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal hydrolase, acid beta-glucosidase. Three phenotypically distinct subtypes result from different acid beta-glucosidase mutations encoding enzymes with absent or low activity. A sev... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"inborn error of glycosphingolipid metabolism",
"severe neonatal type 2 variant",
"mild type 1",
"type 1",
"severe neonatal type 2 variant"
] | [
"autosomal recessive",
"acid beta-glucosidase mutations",
"only other non-pseudogene-derived complex allele, D140H+E326K, also had the E326K lesion",
"D140H+E326K/K157Q genotype",
"complex alleles",
"E233X mutation expressed no activity",
"K157Q allele had approximately 1% normal specific activity based... | [
"collodion skin",
"ichthyosis",
"rapid neurodegenerative course"
] | null | null | [
"deficient activity of the lysosomal hydrolase, acid beta-glucosidase",
"enzymes with absent or low activity",
"enzyme with a catalytic efficiency similar to that of the N370S enzyme"
] | [
"did not have sufficient activity to protect against the neurologic manifestations"
] |
gaucher:10069725 | Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. | [
"Hepatomegaly is a common manifestation in Gaucher disease. In some patients with the disease, hepatic fibrosis and portal hypertension are observed. A patient with Gaucher disease with the hepatopulmonary syndrome associated with severe cyanosis and hypoxemia was examined for intrapulmonary right-to-left shunt usi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hepatomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Gaucher disease",
"Gaucher disease"
] | null | [
"Hepatomegaly",
"hepatic fibrosis",
"portal hypertension",
"hepatopulmonary syndrome",
"severe cyanosis",
"hypoxemia",
"intrapulmonary right-to-left shunt",
"approximately 50% right to left shunt"
] | null | null | null | null |
gaucher:10048015 | [Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]. | [
"Gaucher's disease, a sphingolipidose transmitted by autosomal-recessive inheritance, is caused by a deficiency of the lysosomal enzyme beta-glucocerebrosidase which is responsible for hydrolysation of glucocerebroside to ceramid and glucose. Thus glucocerebroside is accumulated in the reticuloendothelial cells of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"sphingolipidose",
"intermediate uveitis",
"uveitis masquerade syndrome with M. Gaucher",
"M. Gaucher",
"intermediate uveitis"
] | [
"transmitted by autosomal-recessive inheritance"
] | [
"left-sided intermediate uveitis of unknown origin",
"decreasing visual acuity to perception of hand movements",
"intact projection of light",
"bone lesions",
"vitreous opacities resolved almost completely",
"dramatic improvement",
"severe vitritis",
"successful clinical improvement"
] | [
"Intravenous therapy with alglucerase",
"five months of treatment",
"treatment with alglucerase",
"administration of alglucerase"
] | null | [
"deficiency of the lysosomal enzyme beta-glucocerebrosidase",
"hepatoslpenomegaly",
"anemia",
"thrombocytopenia"
] | [
"exclude a systemic disease",
"no response to steroid treatment"
] |
gaucher:10029812 | Massive splenomegaly and Epstein-Barr virus-associated infectious mononucleosis in a patient with Gaucher disease. | [
"Gaucher disease should be considered in the differential diagnosis of a patient with Epstein-Barr virus (EBV) infection who has unexplained or disproportionate splenomegaly.",
"A previously asymptomatic adolescent with EBV-associated infectious mononucleosis and massive splenomegaly is described. He was found to... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Epstein-Barr virus (EBV) infection",
"EBV-associated infectious mononucleosis",
"Gaucher disease",
"infectious mononucleosis"
] | null | [
"unexplained or disproportionate splenomegaly",
"massive splenomegaly",
"Regression of splenomegaly",
"disproportionate organomegaly"
] | null | null | [
"assay of beta-glucosidase enzyme activity",
"improving hematologic indices"
] | [
"asymptomatic",
"exclude a hematologic malignancy",
"exclude a hematologic malignancy",
"underlying storage disorder such as Gaucher disease"
] |
gaucher:10029265 | Technetium-99m-HmPAO brain SPECT in infantile Gaucher's disease. | [
"The authors report serial technetium-99m hexamethylpropylene-amine-oxime brain single photon emission computed tomography (SPECT) findings in two infants with Gaucher's disease type 2. Detailed neurologic and laboratory examinations, including bone marrow biopsies and enzymatic assays, were described. Serial brain... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n serial technetium-99m hexamethylpropylene-amine-oxime brain single photon emission compute... | [
"Gaucher's disease type 2",
"Gaucher's disease type 2",
"neuronopathic Gaucher's disease"
] | null | [
"progressive cerebral atrophy in the frontal and temporal lobes",
"positive findings of initial scattered hypoperfusion, with extending to hypoperfusion of the entire cerebrum",
"4 months of clinical deterioration",
"progressive degeneration of the cerebrum",
"neurologic deficits"
] | null | null | null | null |
gaucher:10027528 | Pseudogaucher cells in cutaneous Mycobacterium avium intracellulare infection: report of a case. | [
"We report on a patient infected with human immunodeficiency virus, and with cutaneous Mycobacterium avium intracellulare, in whom many cells with abundant reticulated cytoplasm resembling the characteristic cells of Gauchers disease (\"pseudogaucher cells\") were noted within the dermal infiltrate on biopsy. Altho... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a patient \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infected with human immunodeficiency virus\n <span style=\"font-size: 0.8em; font-w... | [
"infected with human immunodeficiency virus",
"cutaneous Mycobacterium avium intracellulare",
"M. avium intracellulare infection"
] | null | null | null | null | null | null |
gaucher:9931539 | Splenic abscess in a patient with type 3 Gaucher's disease receiving enzyme replacement therapy. | [
"We report the rare complication of a splenic abscess in an 11-year-old girl with type 3 Gaucher's disease, massive splenomegaly, and a splenic cyst after commencement of enzyme replacement therapy. This case highlights potential difficulties in establishing the diagnosis of splenic abscess in the presence of pre-e... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the rare complication of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenic abscess\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"splenic abscess",
"type 3 Gaucher's disease",
"splenic abscess"
] | null | [
"massive splenomegaly",
"splenic cyst",
"splenic pathology"
] | [
"commencement of enzyme replacement therapy"
] | null | null | null |
gaucher:9930900 | Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant. | [
"Glucosylceramide lipidosis results from a defective lysosomal degradation of this glycolipid. Lipid degradation is controlled by two components, the enzyme beta-glucocerebrosidase and a sphingolipid activator protein. While most Gaucher cases are due to mutations within the gene that codes for the lysosomal enzyme... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Glucosylceramide lipidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Glucosylceramide lipidosis",
"Gaucher"
] | [
"mutations within the gene that codes for the lysosomal enzyme",
"mutations in the gene for the sphingolipid activator protein C (sap-C)"
] | [
"transient losses of consciousness",
"myoclonic jerks",
"generalized seizures",
"progressive horizontal ophthalmoplegia",
"pyramidal and cerebellar signs",
"died"
] | null | null | [
"Lipid degradation",
"enzyme beta-glucocerebrosidase",
"sphingolipid activator protein",
"sap-C-deficient",
"sphingolipid activator proteins"
] | [
"normal enzyme levels",
"resistant to all antiepileptic drugs",
"General brain lipid composition did not show a remarkable increase or loss of any of the major lipid fractions"
] |
gaucher:9922052 | Non-Hodgkin's lymphoma associated with Gaucher's disease. | [
"Gaucher's disease is an uncommon disorder which has been reported to be associated with an increased risk of lymphoproliferative disorders, including Non-Hodgkin's lymphoma (NHL). A new instance of such an association is described here. This was a 58 year-old-patient with adult type I Gaucher's disease who, one an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"uncommon disorder",
"lymphoproliferative disorders",
"Non-Hodgkin's lymphoma (NHL)",
"large-cell NHL of B-cell type",
"Gaucher's disease associated with NHL"
] | null | [
"supraclavicular lymphadenopathy",
"massive splenomegaly",
"prominent retroperitoneal lymphadenopathy"
] | [
"chemotherapy"
] | null | [
"increased serum LDH levels"
] | null |
gaucher:9885741 | [Persistence of pulmonary lesions in a 6-year-old boy with type I Gaucher's disease treated by alglucerase since the age of 20 months]. | [
"Gaucher's disease is a serious disorder which becomes curable by bone marrow transplantation. Enzyme replacement therapy has permitted improvement in quality of life and has been shown to decrease the disease's progression.",
"A 6-year-old boy was treated by alglucerase (Ceredase) since the age of 20 months. He ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"serious disorder",
"pulmonary disease from fibrotic origin"
] | null | [
"improvement in quality of life",
"failure to thrive",
"hepatosplenomegaly",
"bone involvement",
"diffuse reticulonodular pattern",
"improvement of growth and hepatosplenomegaly",
"important interstitial syndrome"
] | [
"bone marrow transplantation",
"Enzyme replacement therapy",
"treated by alglucerase (Ceredase)"
] | null | [
"pancytopenia",
"hematological parameters and bone changes normalization"
] | [
"without clinical signs"
] |
gaucher:9883322 | New tongue protector to prevent decubital lingual ulcers caused by tongue thrust with myoclonus. | [
"We treated tongue ulcers in a twenty-two-month-old male child with Gaucher disease and several neuronopathic symptoms, including frequent convulsions. Because the patient was always thrusting his tongue and biting with his upper and lower primary incisors during the myoclonus and convulsions, traumatic decubital u... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We treated \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n tongue ulcers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Gaucher disease"
] | null | [
"tongue ulcers",
"neuronopathic symptoms",
"frequent convulsions",
"thrusting his tongue and biting with his upper and lower primary incisors",
"myoclonus",
"convulsions",
"traumatic decubital ulcers on the dorsum and ventral surface of the tongue",
"convulsions",
"bleeding",
"pus discharges",
"... | [
"protection of the tongue from the teeth",
"tongue protector was fabricated from a soft silicone relining material used for dentures",
"protector covered the mandibular primary central incisors, the alveolar ridge, and the ventral surface, apex and dorsum of the tongue",
"two months of using the protector"
] | null | null | null |
gaucher:9860012 | Corneal opacities in Gaucher disease. | [
"To describe the corneal findings in a variant of Gaucher disease.",
"Case report. In an 18-year-old man, ophthalmic and general clinical evaluation, and enzymatic and molecular genetics studies were performed.",
"Diffuse, well-defined, small, linear, or dotlike corneal opacities were observed through, out the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe the corneal findings in a variant of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-we... | [
"Gaucher disease",
"calcific valvular heart disease",
"Gaucher disease",
"variant of Gaucher disease associated with the D409H mutation",
"calcific cardiac disease"
] | [
"homozygosity for a D409H mutation"
] | [
"Diffuse, well-defined, small, linear, or dotlike corneal opacities were observed through, out the posterior two thirds of the corneal stroma in both eyes",
"Corneal opacities"
] | null | null | null | null |
gaucher:9858249 | Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. | [
"We report the identification in five patients (three families) affected with type 2B von Willebrand disease (VWD) of three heterozygous nucleotide substitutions at the codon for arginine 543, 545 and 578 of the mature von Willebrand factor (VWF) subunit resulting in a glutamine, proline and leucine substitution, r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the identification in five patients (three families) affected with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2B von Willebrand disease (... | [
"type 2B von Willebrand disease (VWD)"
] | [
"three heterozygous nucleotide substitutions at the codon for arginine 543, 545 and 578 of the mature von Willebrand factor (VWF) subunit resulting in a glutamine, proline and leucine substitution",
"mutations are located in the A1 loop where prevalent type 2B mutations (Arg543Trp, Arg545Cys and Arg578Gln)",
"s... | null | null | null | [
"quantitatively normal expression",
"increased ristocetin- and botrocetin-induced binding to platelets",
"rVWF",
"reactivity for GPIb of corresponding rVWFs"
] | [
"normal multimeric pattern"
] |
gaucher:9851895 | A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. | [
"Gaucher disease, the most prevalent inherited sphingolipidosis, is characterized by lipid laden histiocytes in the spleen, liver and bone marrow sinusoids of affected individuals. It results from deleterious mutations in the functional gene of glucocerebrosidase (acid beta-glucosidase, EC. 3.2.1.45) and is transmi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Gaucher disease",
"Type 1 non-neuronopathic",
"type 2 acute neuronopathic",
"type 3 subacute neuronopathic",
"type 2 Gaucher disease"
] | [
"inherited sphingolipidosis",
"deleterious mutations in the functional gene of glucocerebrosidase (acid beta-glucosidase, EC. 3.2.1.45)",
"transmitted as an autosomal recessive trait",
"novel mutations",
"Two heterozygous missense point mutations, one at cDNA nucleotide 238A (E41L) and the other at cDNA nuc... | [
"died"
] | null | null | null | null |
gaucher:9845532 | A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization. | [
"In type 2N von Willebrand disease (vWD), von Willebrand factor (vWF) is characterized by normal multimeric pattern, normal platelet-dependent function, but a markedly decreased affinity for factor VIII (FVIII). In this report, we describe the case of a vWD patient who has an abnormal vWF multimers distribution ass... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2N von Willebrand disease (vWD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"type 2N von Willebrand disease (vWD)",
"vWD"
] | [
"at heterozygous state",
"G-->A transition resulting in the substitution of Asn for Asp at position 116 of the mature vWF subunit and a C-->T transition, changing the codon for Arg 896 into a stop codon",
"candidate (Asn116) missense mutation",
"expression level of Asn116rvWF was significantly decreased",
"... | null | null | null | [
"von Willebrand factor (vWF)",
"markedly decreased affinity for factor VIII (FVIII)",
"abnormal vWF multimers distribution",
"markedly decreased vWF ability to bind FVIII",
"rvWF",
"multimeric pattern of Asn116rvWF was greatly impaired",
"decrease in high molecular weight forms",
"The FVIII binding ab... | [
"normal multimeric pattern",
"normal platelet-dependent function",
"normal FVIII/vWF interaction"
] |
gaucher:9839139 | Negative images due to MAI infection detected in Papanicolaou-stained duodenal brushing cytology. | [
"Atypical mycobacteriosis of the duodenum was diagnosed by duodenal brush cytology in a woman with AIDS. Smears were fixed in alcohol and stained by the method of Papanicolaou. The cytological characteristics of this disease have been described previously in other cytological specimens such as imprints or fine-need... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Atypical mycobacteriosis of the duodenum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Atypical mycobacteriosis of the duodenum",
"AIDS",
"atypical mycobacteriosis"
] | null | null | null | null | null | null |
gaucher:9825582 | Alglucerase enzyme replacement therapy used safely and effectively throughout the whole pregnancy of a Gaucher disease patient. | [
"We present the case of a woman with Gaucher disease who was being given alglucerase as enzyme replacement therapy. She was found to be pregnant: the treatment was continued. She gave birth to a healthy son after a spontaneous vaginal delivery at term."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Gaucher disease"
] | null | null | [
"given alglucerase as enzyme replacement therapy",
"the treatment",
"gave birth to a healthy son",
"spontaneous vaginal delivery at term"
] | null | null | null |
gaucher:9793273 | Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease. | [
"We present a patient with type 1 Gaucher's disease in whom the spleen size during 34 years of follow-up reached a maximum of 6 cm. below the costal margin, but in 1993 began to decrease spontaneously and presently can no longer be felt by abdominal palpation."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"type 1 Gaucher's disease"
] | null | [
"spleen size during 34 years of follow-up",
"reached a maximum of 6 cm. below the costal margin",
"began to decrease"
] | null | null | null | [
"can no longer be felt by abdominal palpation"
] |
gaucher:9792286 | Type 2N von Willebrand disease due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene. | [
"Two members of a family previously classified as type 1 von Willebrand disease (VWD), showed a quantitative defect in von Willebrand factor (VWF) antigen and ristocetin cofactor activity and an abnormal capacity of VWF to bind FVIII. Sequencing of the VWF gene region coding for the FVIII binding domain revealed th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two members of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"type 1 von Willebrand disease (VWD)",
"type 2N VWD"
] | [
"most frequent type 2N mutation: a single nucleotide change (G2811A) in exon 20, resulting in substitution of glutamine (Gln) for arginine (Arg) 91 in the mature VWF protein in one allele",
"The other allele contained a cytosine deletion (2680delC) in exon 18, introducing a premature stop codon at position 79 (Va... | null | null | [
"Italy"
] | [
"quantitative defect in von Willebrand factor (VWF) antigen and ristocetin cofactor activity",
"abnormal capacity of VWF to bind FVIII",
"quantitative defect in VWF levels",
"lack of VWF production"
] | null |
gaucher:9745785 | An autopsy case of fetal Gaucher disease. | [
"A case of fetal form of Gaucher disease in a Japanese fetus is presented.",
"A macerated baby showing hydrops fetalis was dissected at 29 weeks of gestation. The fetus was heavier in the body, liver and spleen than a normal fetus at the same gestation period. It also suffered from pericardial effusion and ascite... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fetal form of Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"fetal form of Gaucher disease",
"hydrops fetalis",
"Gaucher disease"
] | null | [
"macerated",
"fetus",
"heavier in the body, liver and spleen",
"pericardial effusion",
"ascites"
] | null | [
"Japanese"
] | null | null |
gaucher:9733040 | Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis. | [
"Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozygosity for the D... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"neurological forms"
] | [
"mutations in the gene encoding glucocerebrosidase",
"Mutation D409H",
"homozygosity for the D409H mutation",
"D409H/D409H genotype",
"common origin for the Spanish D409H alleles"
] | [
"specific cardiovascular symptoms",
"very early manifestation of the disease"
] | [
"enzyme replacement therapy"
] | [
"Spanish",
"Spanish"
] | null | [
"was ruled out"
] |
gaucher:9723584 | Coincidence of Gaucher's disease due to a private mutation and Ph' positive chronic myeloid leukemia. | [
"We report the case of a 46-year-old female with coexisting type I Gaucher's disease and chronic myeloid leukemia (CML). The diagnosis of Gaucher's disease was made in early childhood by bone marrow biopsy and was recently confirmed by biochemical demonstration of reduced leukocyte beta-glucocerebrosidase activity ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 46-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"coexisting type I Gaucher's disease and chronic myeloid leukemia (CML)",
"Gaucher's disease",
"CML",
"Gaucher's disease",
"CML",
"CML"
] | [
"homozygosity for a C-->T transition in cDNA nucleotide 593 (159 Pro-->Leu), presently an undescribed mutation",
"Philadelphia chromosome (Ph)"
] | [
"hepatosplenomegaly",
"aggravation of skeletal manifestations"
] | [
"replacement therapy with alglucerase",
"intermittent treatment with busulfan",
"remained in chronic phase for nine years"
] | null | [
"reduced leukocyte beta-glucocerebrosidase activity",
"significant increase of the platelet count",
"thrombocytopenia",
"genetic beta-glucocerebrosidase deficiency"
] | null |
gaucher:9714529 | A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease. | [
"Phenotype IIC of von Willebrand disease (vWD) is a subtype of type 2A vWD characterized by recessive inheritance and an impaired multimerization of von Willebrand factor (vWF) molecules beyond dimers. The 5 patients with phenotype IIC whose vWF gene defect has been characterized so far are either homozygous or dou... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Phenotype IIC of von Willebrand disease (vWD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Phenotype IIC of von Willebrand disease (vWD)",
"type 2A vWD",
"phenotype IIC",
"phenotype IIC vWD",
"phenotype IIC"
] | [
"recessive inheritance",
"vWF gene defect",
"homozygous or double heterozygotes for mutations localized in exons 11, 12, 14 or 15",
"new candidate mutation",
"homozygous for the A1833G nucleotide substitution, in exon 14 of vWF gene, responsible for the N528S mutation within the vWF propeptide",
"heterozy... | null | null | [
"Japanese"
] | [
"impaired multimerization of von Willebrand factor (vWF) molecules beyond dimers",
"multimerization defect of vWF"
] | [
"asymptomatic",
"did not reveal any other deleterious sequence alteration"
] |
gaucher:9695619 | Hematological complications of Gaucher's disease in pregnancy. | [
"A case is presented of a 31-year-old Filipino female, gravida 5 para 2, at 38 weeks plus 5 days gestation, with known type I Gaucher's disease who underwent repeat cesarean delivery. After cesarean delivery, the patient developed disseminated intravascular coagulation and required transfusion of eight 6-packs of p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case is presented of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 31-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"type I Gaucher's disease",
"type I Gaucher's disease",
"lysosomal storage disorder",
"pregnancies",
"Gaucher's disease"
] | [
"autosomal recessive"
] | [
"Hemorrhagic problems",
"postpartum"
] | [
"38 weeks plus 5 days gestation",
"repeat cesarean delivery",
"cesarean delivery",
"transfusion of eight 6-packs of platelets, 6 units of fresh frozen plasma, two 10-packs of cryoprecipitate, and 6 units of packed red blood cells",
"Pregnancy",
"significant support with blood and blood products"
] | [
"Filipino"
] | [
"disseminated intravascular coagulation",
"severe thrombocytopenia"
] | null |
gaucher:9658738 | Enzyme replacement therapy decreases hypergammaglobulinemia in Gaucher's disease. | [
"We report the effects of enzyme replacement therapy in a patient with Gaucher's disease associated with a monoclonal gammopathy. Alglucerase induces a linear decline in immunoglobulin and beta 2-microglobulin levels. This observation suggests that this treatment decreases the chronic antigenic stimulation commonly... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the effects of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"Gaucher's disease",
"monoclonal gammopathy"
] | null | null | [
"enzyme replacement therapy",
"Alglucerase"
] | null | [
"linear decline in immunoglobulin and beta 2-microglobulin levels"
] | null |
gaucher:9656836 | [Gaucher disease type 1--therapeutic results of enzyme substitution]. | [
"Gaucher's disease is the most common inherited lysosomal storage disorder, displaying hepato-splenomegaly, thrombocytopenia, anaemia and bone pain as characteristic features. Substitution therapy with a modified enzyme alglucerase has revolutionized the treatment and prognosis of Gaucher's disease. The first Danis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"lysosomal storage disorder",
"Gaucher's disease"
] | [
"inherited"
] | [
"hepato-splenomegaly",
"bone pain"
] | [
"Substitution therapy with a modified enzyme alglucerase",
"treated with alglucerase"
] | [
"Danish"
] | [
"thrombocytopenia",
"anaemia"
] | null |
gaucher:9650766 | A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. | [
"We report on a sibship in which three members were affected by Gaucher disease. Molecular analysis of the patients showed homozygosity for a novel mutation (C5390G) of the beta-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sibship in which three members were affected by Gaucher disease\n <span style=\"font-size: ... | null | [
"homozygosity for a novel mutation (C5390G) of the beta-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine"
] | [
"visceral and skeletal manifestations",
"seizures",
"electrophysiological abnormalities",
"neurologic involvement"
] | null | null | [
"reduced amount of beta-glucocerebrosidase-related polypeptides in fibroblasts"
] | null |
gaucher:9635296 | Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. | [
"Gaucher disease, the deficiency of the lysosomal enzyme glucocerebrosidase (EC 3.2.1.45), is frequently encountered in the Ashkenazi Jewish population. Carrier screening for Gaucher disease by enzyme analysis performed during a routine pregnancy indicated that both Ashkenazi parents were carriers. Screening for fo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Gaucher disease",
"hydrops fetalis",
"severe type 2 Gaucher disease"
] | [
"L444P mutation",
"the expected paternal allele was not present",
"appropriately sized band (approximately 6.5 kb) and one smaller (approximately 5.2 kb) band",
"novel fusion allele resulting from recombination between the glucocerebrosidase gene and its pseudogene beginning in intron 3",
"fusion allele was... | null | [
"pregnancy was terminated"
] | [
"Ashkenazi Jewish",
"Ashkenazi"
] | [
"deficiency of the lysosomal enzyme glucocerebrosidase (EC 3.2.1.45)"
] | [
"None of the common Ashkenazi mutations were identified"
] |
gaucher:9633179 | [Gaucher's disease suspected by abdominal echography findings]. | [
"Abdominal ultrasonographic findings of Gaucher's disease had been reported, but a specific pattern has not been described. We report here a patient with an abdominal sonographic pattern which was concluded to be strongly suggestive of Gaucher's disease: solid focal splenic lesions with different patterns (hypoecho... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Abdominal ultrasonographic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | [
"mutations of glucocerebrosidase gene"
] | [
"abdominal sonographic pattern",
"solid focal splenic lesions with different patterns (hypoechoic, hiperechoic and mixed nodules associated with hypoechoic irregular areas)",
"bright liver and spleen echo pattern with posterior beam attenuation"
] | null | null | [
"leukocyte beta-glucosidase activity"
] | null |
gaucher:9545478 | Reconversion of bone marrow in Gaucher disease treated with enzyme therapy documented by MR. | [
"Skeletal complications are responsible for significant morbidity in Gaucher patients. Plain radiographs have been unreliable in assessing bone marrow infiltration and activity. A way to assess bone marrow improvement is needed during enzyme therapy.",
"The purpose of this paper is to assess the usefulness of MR ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Skeletal complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher",
"Gaucher",
"Gaucher"
] | null | [
"Skeletal complications",
"improvement in marrow signal consistent with partial reconversion to fatty marrow",
"improvement in marrow signal"
] | [
"enzyme therapy",
"enzyme therapy",
"treatment with Alglucerase",
"Imiglucerase",
"after 16 months of therapy",
"6 months of therapy",
"prolonged therapy",
"enzyme therapy",
"smaller doses of enzyme therapy"
] | null | null | [
"bone marrow infiltration and activity"
] |
gaucher:9622676 | Membranous lamellar cytoplasmic inclusions in histiocytes and mesothelial cells of serous fluids. Their relationship to phagocytosis of red blood cells. | [
"To define the composition of cytoplasmic inclusions forming stacks and concentric whorls in histiocytes and mesothelial cells of serous fluids, imparting to them a resemblance to Gaucher cells, and to draw conclusions on the mechanism of their formation.",
"Three serous fluids (one pleural and two pericardial) c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To define the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n composition of cytoplasmic inclusions forming stacks and concentric whorls in histiocytes and m... | null | null | null | null | null | [
"weakly positive for hemoglobin"
] | [
"negative for all other substances examined",
"not metabolic or other systemic disease in the patients",
"metabolic or other systemic disease"
] |
gaucher:9603417 | Bone marrow transplantation from a cadaveric donor. | [
"A 2.5-year-old girl with neurogenic Gaucher's disease was transplanted with donor bone marrow from her HLA-compatible 12-year-old brother whose marrow was harvested 30 min post-mortem, after he suffered a severe head and neck injury. The marrow was stored in liquid nitrogen for 30 days prior to infusion. The post-... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 2.5-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"neurogenic Gaucher's disease"
] | null | [
"severe head and neck injury",
"good engraftment"
] | [
"transplanted with donor bone marrow from her HLA-compatible 12-year-old",
"The marrow was stored in liquid nitrogen for 30 days prior to infusion",
"post-transplantation",
"post-allogeneic bone marrow transplantation (alloBMT)",
"cadaveric marrow as a source of donor cells",
"alloBMT from a cadaveric don... | null | null | [
"no signs of graft-versus-host disease"
] |
gaucher:9587757 | Pseudotumor formation in tibia in Gaucher's disease. | [
"A very rare case of type 1 Gaucher's disease with pseudotumor formation in the right tibia is presented. In addition to the characteristic radiographic finding of distal femoral flaring (Erlenmeyer flask deformity), a lobulated osteolytic area with surrounding sclerosis was seen in the proximal metaphysis of the r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A very rare case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"type 1 Gaucher's disease",
"Gaucher's disease"
] | null | [
"pseudotumor formation in the right tibia",
"distal femoral flaring (Erlenmeyer flask deformity)",
"lobulated osteolytic area with surrounding sclerosis was seen in the proximal metaphysis of the right tibia",
"pseudotumor appearance",
"old pathologic fracture"
] | null | null | null | [
"no significant soft tissue swelling was evident"
] |
gaucher:9382912 | Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease. | [
"The beneficial effects of macrophage-targeted glucocerebrosidase (Ceredase) in patients with Gaucher disease are well established. A minority of recipients develop transient nonneutralizing antibodies to the exogenous enzyme. A 7-year-old patient with type 3 Gaucher disease whose clinical course began to deteriora... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The beneficial effects of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n macrophage-targeted glucocerebrosidase (Ceredase)\n <span style=\"font-size: 0.8... | [
"Gaucher disease",
"type 3 Gaucher disease",
"Gaucher disease"
] | [
"genetic mutation abrogates the production of the protein"
] | [
"clinical course began to deteriorate",
"Clinical parameters that had been deteriorating",
"repeated skeletal infarctions",
"progressive enlargement and infarction of the spleen) all improved"
] | [
"macrophage-targeted glucocerebrosidase (Ceredase)",
"receiving Ceredase",
"enzyme replacement therapy",
"treated with two courses of a combination of plasma exchange, cyclophosphamide, intravenous IgG, and large doses of Ceredase",
"second course of this regimen",
"Ceredase",
"plasma exchange, cyclopho... | null | [
"transient nonneutralizing antibodies to the exogenous enzyme",
"progressively increasing titer of IgG antibody that blocked the catalytic activity of Ceredase",
"the titer of the neutralizing antibody in the blood gradually declined to negligible levels",
"reduction of hemoglobin level",
"increased serum a... | [
"no recurrence of the neutralizing antibody",
"CRIM-negative individuals"
] |
gaucher:9585001 | Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. | [
"Gaucher's disease, the inherited deficiency of glucocerebrosidase, manifests with vast phenotypic variation. Even among patients with type 2 (acute neuronopathic) Gaucher's disease, there is a spectrum of clinical presentations. DNA samples from 14 patients with type 2 Gaucher's disease with a course ranging from ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"type 2 (acute neuronopathic) Gaucher's disease",
"type 2 Gaucher's disease",
"type 2 Gaucher",
"hydrops fetalis",
"type 2 Gaucher's disease"
] | [
"inherited deficiency of glucocerebrosidase",
"L444P",
"mutation L444P occurred as a single point mutation in seven mutant alleles and as part of a recombinant allele in eight mutant alleles",
"deletion of 55 bp in exon 9",
"the deletion was part of a recombinant allele",
"the deletion occurred alone",
... | [
"intrauterine death at 22 wk of gestation",
"survival until age 30 mo",
"died in utero or at birth",
"congenital ichthyosis",
"died"
] | null | null | [
"appropriately sized mRNA",
"decreased protein detected by Western blot"
] | null |
gaucher:9568149 | Imprint cytology of Gaucher's disease presenting as a splenic mass. A case report with molecular approaches. | [
"Gaucher's disease is an autosomally transmitted lysosomal storage disease caused by a defect in the lysosomal enzyme, beta-glucosidase.",
"A 43-year-old male presented with splenomegaly and anemia. Magnetic resonance imaging examination of the abdomen revealed huge, round masses in the spleen. Intraoperative cyt... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"lysosomal storage disease",
"Gaucher's disease",
"Gaucher's disease",
"lysosomal storage disorder"
] | [
"autosomally transmitted",
"seven glucocerebrosidase mutations",
"heterozygous for the 754 mutation"
] | [
"splenomegaly",
"huge, round masses in the spleen"
] | null | null | [
"defect in the lysosomal enzyme, beta-glucosidase",
"anemia",
"deficiency of beta-glucosidase",
"residual activity was 15% of control values"
] | null |
gaucher:9557496 | Anaesthetic management of children with type II and III Gaucher disease. | [
"The anaesthetic management of two children with Gaucher disease is described. The cases were a girl aged 12 and a boy aged 4 who had undergone 13 and 3 anaesthetic interventions respectively for endoscopic, orthopaedic, general, otolaryngologic and dental surgical procedures over a total period of 11 years. Anaest... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anaesthetic management\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher disease"
] | null | [
"end-organ dysfunction",
"postoperative respiratory insufficiency"
] | [
"anaesthetic management",
"anaesthetic interventions",
"endoscopic, orthopaedic, general, otolaryngologic and dental surgical procedures",
"total period of 11 years",
"Anaesthetic management",
"regional anaesthesia",
"general anaesthesia"
] | null | null | null |
gaucher:9519787 | Pseudo-Gaucher histiocytes identified up to 1 year after transplantation for CML are BCR/ABL-positive. | [
"The results of polymerase chain reaction (PCR) analysis after transplantation for chronic myelogenous leukemia (CML) are difficult to interpret clinically. Positive findings for BCR/ABL can be seen not only in patients who go on to relapse but also in patients who, after years of follow-up, remain in complete remi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The results of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n polymerase chain reaction (PCR) analysis\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"chronic myelogenous leukemia (CML)",
"CML"
] | null | [
"clinical remission"
] | [
"transplantation",
"syngeneic or allogeneic hematopoietic transplantation",
"transplant",
"post-transplant",
"transplantation",
"transplantation"
] | null | [
"Positive findings for BCR/ABL",
"persistent PCR positivity"
] | [
"remain in complete remission",
"lack of concordance between PCR findings",
"relapse",
"cytogenetically normal",
"germline MBCR in blood or bone marrow",
"not predictive of disease relapse"
] |
gaucher:9512964 | First long-term results of imiglucerase therapy of type 1 Gaucher disease. | [
"In the early 1990s, enzyme replacement therapy with modified placental glucocerebrosidase (alglucerase, Genzyme Corporation, Cambridge, MA, USA) was shown to arrest or reverse complications and to improve quality of life in patients with type 1 Gaucher's disease. More recently, modified recombinant glucocerebrosid... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In the early 1990s, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy with modified placental glucocerebrosidase (alglucerase\n <... | [
"type 1 Gaucher's disease",
"type 1 Gaucher's disease",
"severe type 1 Gaucher's disease",
"type 1 Gaucher's disease"
] | null | [
"arrest or reverse complications",
"improve quality of life",
"bone pain decreased notably",
"Abdominal pain abated",
"fatigue decreased",
"physical fitness and general well-being improved",
"Nosebleeds",
"haematomas ceased",
"Bone pain diminished further",
"improvement of liver function"
] | [
"enzyme replacement therapy with modified placental glucocerebrosidase (alglucerase",
"modified recombinant glucocerebrosidase (imiglucerase, Genzyme Corporation)",
"to alglucerase",
"imiglucerase therapy",
"30 months' imiglucerase infusions, 40 U/kg body weight every 2 weeks for 17 months, then 60 U/kg eve... | [
"Europe"
] | [
"much greater improvement in laboratory values, especially platelet count",
"aminotransferases, gamma-GT, total protein, and prothrombine time improved"
] | [
"No adverse reactions",
"anti-imiglucerase antibody assay was negative at 17 months",
"without complains"
] |
gaucher:9503462 | The nature and extent of jaw involvement in Gaucher disease: observations in a series of 28 patients. | [
"A wide variety of osteoarticular pathoses plague the clinical course of many patients with Gaucher disease. Osseous lesions involving the jaws have been described, usually as isolated case reports. The purpose of this study was to ascertain the nature and extent of mandibulo-maxillofacial pathosis in 28 patients w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A wide variety of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n osteoarticular pathoses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Gaucher disease",
"Gaucher disease"
] | null | [
"osteoarticular pathoses",
"Osseous lesions involving the jaws",
"mandibulo-maxillofacial pathosis",
"radiographic evidence of jaw involvement",
"gross widening of marrow spaces",
"frank radiolucencies",
"endosteal scalloping",
"cortical thinning",
"root resorption",
"inferior displacement of the ... | null | null | null | null |
gaucher:9492502 | [Anesthetic management involving difficult intubation in a child with Gaucher disease]. | [
"Gaucher disease is the most common of the glycolipid storage disorders caused by the deficiency of glucocerebrosidase, an enzyme which hydrolyzes glucocerebroside to glucose and ceramide. Accumulation of the substrate leads to multiorgan dysfunction involving the brain, spleen, liver, lymph node and bone marrow. I... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"glycolipid storage disorders",
"Gaucher disease"
] | null | [
"multiorgan dysfunction",
"gastroesophageal reflux",
"recurrent aspiration",
"airway difficulties",
"trismus",
"neck extension",
"developmental delay",
"splenomegary gastroesophageal reflux",
"trismus",
"opisthotonic posturing",
"difficult airway maintenance",
"difficult airway",
"trismus",
... | [
"total splenectomy",
"Nissen fundoplication",
"special mask that has an introducer port for fiberbronchoscope",
"insert a laryngeal mask",
"special mask",
"Tracheal intubation",
"mask for fiberoptic intubation"
] | null | [
"deficiency of glucocerebrosidase",
"hydrolyzes glucocerebroside to glucose and ceramide",
"pancytopenia",
"mild pancytopenia"
] | [
"Airway narrowing was not shown",
"insertion was difficult"
] |
gaucher:9423759 | Use of enzyme replacement therapy for Gaucher disease during pregnancy. | [
"To date there has been little published experience with enzyme replacement therapy in pregnant women with symptomatic type I Gaucher disease.",
"We describe six patients, including three with repeated early pregnancy loss, five of whom successfully carried pregnancies to term; the last pregnancy was terminated b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To date there has been little published experience with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-si... | [
"symptomatic type I Gaucher disease",
"Gaucher disease"
] | null | [
"repeated early pregnancy loss",
"pulmonary hypertension",
"pregnancies were uneventful",
"obstetric complications",
"pulmonary hypertension",
"clinical improvement",
"fewer complications during pregnancy and delivery and post partum"
] | [
"enzyme replacement therapy",
"successfully carried pregnancies to term",
"last pregnancy was terminated",
"enzyme replacement therapy"
] | null | null | [
"pregnancy",
"not contraindicated",
"not be interrupted"
] |
gaucher:9341594 | Multiple myeloma arising from monoclonal gammopathy of undetermined significance in a patient with Gaucher's disease. | [
"We report the case of a 64-year-old woman who, 12 years after receiving a diagnosis of Gaucher's disease with concurrent monoclonal gammopathy of undetermined significance, developed worsening thrombocytopenia and bone pain. Bone marrow biopsy at this time revealed 50% plasma cells with a serum monoclonal immunogl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 64-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gaucher's disease",
"monoclonal gammopathy of undetermined significance",
"multiple myeloma",
"monoclonal gammopathy of undetermined significance",
"multiple myeloma",
"Gaucher's disease"
] | null | [
"bone pain",
"lytic clavicular lesion",
"increased bone pain"
] | null | null | [
"worsening thrombocytopenia",
"cytopenias"
] | [
"potentially malignant plasma cell dyscrasias"
] |
gaucher:9314241 | Should repeated partial splenectomy be attempted in patients with hematological diseases? Technical pitfalls and causes of failure in Gaucher's disease. | [
"The awareness of the risk of overwhelming sepsis after splenectomy prompted surgeons to attempt splenic preservation in patients who had hematologic diseases for which splenectomy was the conventional treatment. Partial splenectomy for Gaucher's disease was widely performed before the introduction of alglucerase. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The awareness of the risk of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n overwhelming sepsis\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"hematologic diseases",
"Gaucher's disease",
"hematologic diseases",
"Gaucher's disease"
] | null | [
"overwhelming sepsis"
] | [
"splenectomy",
"splenic preservation",
"splenectomy",
"Partial splenectomy",
"alglucerase",
"second partial splenectomy",
"failed repeated partial splenectomy",
"reintervention",
"partial splenectomy"
] | null | null | [
"before alglucerase was available"
] |
gaucher:9295080 | Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient. | [
"A 26-year-old Bedouin with moderate thrombocytopenia and enlarged spleen and liver was diagnosed as having type I Gaucher disease based on the presence of Gaucher cells in the bone marrow biopsy and enzymatic determination of glucocerebrosidase activity. Molecular analysis excluded 10 common mutations in the gluco... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 26-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"type I Gaucher disease"
] | [
"excluded 10 common mutations in the glucocerebrosidase gene",
"Homozygosity for the C --> T mutation in nucleotide 259 of the cDNA (1763 genomic)",
"homozygosity for this mutation",
"259T",
"Association of the 259T mutation with the \"Pv 1.1 +\" haplotype",
"common origin of the mutated alleles"
] | [
"enlarged spleen and liver",
"very mild phenotype"
] | null | [
"Bedouin"
] | [
"moderate thrombocytopenia",
"enzymatic determination of glucocerebrosidase activity"
] | null |
gaucher:9217217 | Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients. | [
"Gaucher disease is the most prevalent lysosomal storage disease. It is panethnic and results from an inherited deficiency of glucocerebrosidase. Most mutations to date have been identified among Jewish and non-Jewish Caucasian patients; mutations in Chinese patients are largely unknown. We have performed nucleotid... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"type 1 (non-neuropathic) Gaucher disease",
"Gaucher patients"
] | [
"panethnic",
"inherited deficiency of glucocerebrosidase",
"novel heterozygous C --> T mutation at cDNA nucleotide position 475 (R120W)",
"heterozygous for a C --> T transition at cDNA nucleotide position 259 (R48W)",
"novel, heterozygous T --> G transversion at cDNA 226 (F37V)",
"Mutation 1448 (L444P)",
... | null | null | [
"Jewish",
"non-Jewish Caucasian",
"Chinese",
"Chinese",
"non-Jewish Caucasian",
"Korean",
"Arab",
"Chinese",
"Taiwanese"
] | null | null |
gaucher:9267901 | Prenatal ultrasound findings in a fetus diagnosed with Gaucher's disease (type 2) at birth. | [
"A 26-year-old woman with no significant history was found to have a fetus with hepatosplenomegaly and neurological abnormalities in utero on ultrasound. The baby was found to have a severe clinical manifestation of type 2 Gaucher's disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 26-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"fetus with hepatosplenomegaly",
"neurological abnormalities in utero",
"severe clinical manifestation of type 2 Gaucher's disease"
] | null | null | null | [
"no significant history"
] |
gaucher:9215762 | Gaucher disease: enzyme therapy in the acute neuronopathic variant. | [
"The responses to regular intravenous enzyme infusions were compared in two sibs with Gaucher disease type 2, the acute neuronopathic variant. Enzyme administration was begun at 7 months in patient 1 who had severe progressive visceral and neuronopathic disease. No significant effect of enzyme infusions was noted. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The responses to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n regular intravenous enzyme infusions\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"severe progressive visceral and neuronopathic disease",
"infiltrative pulmonary disease",
"Gaucher disease type 2"
] | [
"prenatally diagnosed"
] | [
"Death",
"Overall development progressed at a rate similar to her unaffected full sib",
"death",
"Slowly progressive esotropia",
"ocular paresis",
"dysphagia",
"significant visceral and neurologic effects"
] | [
"regular intravenous enzyme infusions",
"Enzyme administration",
"enzyme infusions",
"anticipatory enzyme therapy"
] | null | null | [
"No significant effect of enzyme infusions"
] |
gaucher:9207436 | Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. | [
"Gaucher disease type 1, a non-neuronopathic lysosomal storage disease, is caused by mutations at the acid beta-glucosidase locus. Periodic infusions of macrophage-targeted acid beta-glucosidase reverse hepatosplenomegaly, hematologic, and bony findings in many patients. Two patients receiving enzyme therapy develo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher disease type 1",
"non-neuronopathic lysosomal storage disease",
"Gaucher disease",
"Gaucher disease"
] | [
"mutations at the acid beta-glucosidase locus"
] | [
"hepatosplenomegaly",
"hematologic, and bony findings",
"minor allergic reactions",
"disease progression",
"disease progression"
] | [
"Periodic infusions of macrophage-targeted acid beta-glucosidase",
"enzyme therapy",
"1 year of treatment",
"Enzyme therapy was discontinued",
"splenectomy",
"immunosuppression/tolerization protocol",
"enzyme therapy"
] | null | [
"neutralizing antibodies to acid beta-glucosidase",
"antibodies to acid beta-glucosidase",
"stable neutralizing antibody titers",
"IgG neutralizing antibodies rapidly and completely inactivated the wild-type, but not the N370S, acid beta-glucosidase in vitro",
"Antibodies to human serum albumin and chorioni... | [
"lack of improvement or progressive disease",
"After initial improvement",
"no additional response to 2 years of high-dose (50 U/kg every 2 weeks) enzyme therapy",
"favorable response to enzyme therapy"
] |
gaucher:9182788 | Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. | [
"Gaucher disease (GD) is a lysosomal storage disorder resulting from impaired activity of lysosomal beta-glucocerebrosidase. More than 60 mutations have been described in the GBA gene. They have been classified as lethal, severe, and mild on the basis of the corresponding phenotype. The fact that most GD patients a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"GD",
"type 1",
"type 1 GD"
] | [
"GBA gene",
"compound heterozygous",
"N370S allele",
"N370S",
"mild mutations",
"at homozygosity",
"novel mutations, I402T and V375L, at homozygosity",
"I402T mutation",
"mild mutations"
] | null | null | [
"Italian",
"Sicily"
] | [
"impaired activity of lysosomal beta-glucocerebrosidase",
"sphingolipid activator protein"
] | null |
gaucher:9381267 | [Type 1 Gaucher disease in a pediatric patient: 12 year's evolution]. | [
"A 14 years old patient, diagnosed in early childhood of type 1 Gaucher's disease is reported to show his unusual genotype and clinical course. The patient is heterozygous for mutation D409H, that in the homozygous patient determines an aggressive disease accompanied by neurological signs, and for a new mutation, w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"type 1 Gaucher's disease"
] | [
"heterozygous for mutation D409H",
"homozygous patient",
"new mutation"
] | [
"aggressive disease",
"neurological signs",
"bone involvement"
] | [
"enzyme replacement therapy"
] | null | null | null |
gaucher:9366181 | [Uncoupling of cerebellar blood flow and metabolism in paraneoplastic cerebellar degeneration: report of a case]. | [
"We report a 65-year-old woman with paraneoplastic cerebellar degeneration (PCD) who showed reduced cerebellar metabolism with preserved blood flow. She was admitted to Gunma University Hospital because of progressive gait and speech disturbances. Neurologic examination revealed nystagmus, dysphagia, explosive spee... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 65-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"paraneoplastic cerebellar degeneration (PCD)",
"PCD",
"ischemic disorders",
"encephalitis",
"mitochondrial diseases",
"brain tumors",
"epilepsy",
"Gaucher disease",
"PCD"
] | null | [
"reduced cerebellar metabolism",
"progressive gait and speech disturbances",
"nystagmus",
"dysphagia",
"explosive speech",
"reduced muscle tone in limbs",
"marked truncal and limb ataxia",
"mild hypesthesia in hands and feet",
"slight cerebellar atrophy",
"CMRO2 was clearly decreased in the cerebe... | null | null | [
"high levels of serum CA19-9 and other tumor markers",
"positive anti-Yo antibody",
"anti-Yo antibody"
] | [
"preserved blood flow",
"although systemic and vigorous checkup failed to find its origin",
"CBF was almost normal",
"normal blood flow pattern in the whole brain"
] |
gaucher:9294918 | Allogeneic bone marrow transplantation for Gaucher disease--a case report. | [
"A Chinese patient who presented painful disability of right hip was diagnosed as having type 1 Gaucher disease four years later when hepatosplenomegaly was found. Splenectomy was performed but her condition did not improve. So human leukocyte antigen (HLA)-matched sibling allogeneic bone marrow transplantation (BM... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Chinese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"type 1 Gaucher disease",
"Gaucher disease"
] | null | [
"painful disability of right hip",
"hepatosplenomegaly",
"symptoms disappeared",
"growth caught up with normal level",
"hepatosplenomegaly",
"bone disorder of unknown causes"
] | [
"Splenectomy",
"human leukocyte antigen (HLA)-matched sibling allogeneic bone marrow transplantation (BMT)",
"BMT",
"Allogeneic BMT"
] | [
"Chinese"
] | null | [
"condition did not improve"
] |
gaucher:9174023 | "Cold bone scans" as a sign of hemorrhagic infarcts of the spine in Gaucher's disease. | [
"The most common form of Gaucher's disease, type 1 (chronic non-neuronopathic), results in accumulation of glucocerebroside in reticuloendothelial cells of the spleen, liver and bone marrow, with frequent occurrence of bone pain due to vaso-occlusive crisis. We report the finding of a \"cold\" vertebral body on bon... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most common form of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Gaucher's disease",
"type 1 (chronic non-neuronopathic)",
"Gaucher's disease",
"Gaucher's disease had not previously been diagnosed"
] | null | [
"bone pain",
"vaso-occlusive crisis",
"a \"cold\" vertebral body",
"bone crisis",
"Photopenia was so striking as to give the appearance of a \"missing\" vertebra"
] | null | null | null | [
"Concurrent plain films appeared normal"
] |
gaucher:9153297 | Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. | [
"Gaucher disease, the most prevalent lysosomal storage disease, occurs in three subtypes, all resulting from mutations in the acid beta-glucosidase gene. Molecular studies in five severely affected type 1 and two type 2 Gaucher disease patients of non-Jewish descent identified six new mutations: K74X, W179X, G195E,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"type 1",
"type 2 Gaucher disease",
"Gaucher disease types 1 and 2"
] | [
"mutations in the acid beta-glucosidase gene",
"six new mutations: K74X, W179X, G195E, S271N, V352L, and a two-base deletion in exon 10 (1450del2)",
"R48W and G202R)",
"missense mutations, R48W and V352L",
"G195E, G202R, and S271N mutant alleles",
"R48W",
"G202R",
"S271N",
"V352L and G195E mutant en... | null | [
"active site-directed inhibitors (castanospermine, conduritol B epoxide and deoxynojirimycin)"
] | [
"non-Jewish descent"
] | [
"14 and 7%",
"of the specific activity based on cross-reacting immunologic material expressed by the normal allele",
"only 1-2% of the normal expressed specific activity based on cross-reacting immunologic material",
"significantly decreased binding affinity"
] | [
"were normally inhibited"
] |
gaucher:9282441 | [Gaucher's disease in pregnancy]. | [
"A case of Gaucher's disease associated with pregnancy is reported. Although clinical symptoms were not present, portal hypertension was detected by ultrasound in the 13th week of pregnancy. Maternal anemia implied the use of erythropoietin from the 33rd week onwards. Good perinatal and maternal outcomes were achie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease associated with pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Gaucher's disease associated with pregnancy"
] | null | [
"portal hypertension",
"Good perinatal and maternal outcomes"
] | [
"use of erythropoietin from the 33rd week onwards"
] | null | [
"Maternal anemia"
] | [
"Although clinical symptoms were not present",
"no hemorrhagic complications"
] |
gaucher:9227238 | Obliteration of maxillary and sphenoid sinuses in Gaucher's disease. | [
"Paranasal sinus obliteration is described in a patient with adult type Gaucher's disease. Plain radiographs and computed tomography showed obliteration of paranasal sinuses due to medullary expansion of surrounding bone. The mandible and maxilla are rarely affected in Gaucher's disease and obliteration of paranasa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Paranasal sinus obliteration\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"adult type Gaucher's disease",
"Gaucher's disease"
] | null | [
"Paranasal sinus obliteration",
"obliteration of paranasal sinuses due to medullary expansion of surrounding bone",
"obliteration of paranasal sinuses due to bony expansion"
] | null | null | null | null |
gaucher:9165468 | Torsion of autotransplanted splenic tissue in Gaucher disease. | [
"A 12-year-old girl who underwent a splenectomy followed by heterotopic splenic autotransplantation for treatment of hypersplenism secondary to Gaucher disease at the age of 3 years presented with acute lower abdominal pain. Radiological investigations were highly suggestive of torsion of the autotransplanted splen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 12-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hypersplenism",
"Gaucher disease"
] | null | [
"acute lower abdominal pain",
"torsion of the autotransplanted splenic tissue",
"torsion of autotransplanted splenic tissue"
] | [
"underwent a splenectomy followed by heterotopic splenic autotransplantation"
] | null | null | null |
gaucher:9303635 | [Indications for splenectomy in Gaucher's disease. Case report]. | [
"Gaucher's disease is a rare metabolic disorder characterized by the lack of beta-glucocerebrosidase enzyme. In this case report a 26-year-old male patient was, first diagnosed as having splenomegaly and a huge haemangioma, therefore managed by total splenectomy. Histologic examination and specific colouring techni... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"rare metabolic disorder",
"Gaucher's disease"
] | null | [
"splenomegaly",
"huge haemangioma"
] | [
"total splenectomy",
"surgical or medical and/or combined",
"splenectomy",
"enzyme replacement therapy",
"genic therapy",
"combined to partial splenectomy"
] | null | [
"lack of beta-glucocerebrosidase enzyme"
] | null |
gaucher:9273582 | [Type I Gaucher's disease. Report of 2 affected families]. | [
"Gaucher's disease (GD) is the most common lisosomic deposit disorders which is caused by an inherited deficit of the glucocerebrosidase enzyme. The most common for in the adult is type I and the clinical manifestations include liver and spleen enlargement, thrombocytopenia, and skeletal changes. Four patients with... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher's disease (GD)",
"lisosomic deposit disorders",
"type I",
"GD type I"
] | [
"inherited deficit of the glucocerebrosidase enzyme"
] | [
"liver and spleen enlargement",
"skeletal changes",
"liver and spleen enlargement",
"skeletal changes",
"pulmonary involvement",
"pulmonary involvement",
"improvement in pulmonary function testing"
] | [
"genetic counsel",
"under substitutive enzyme therapy for 9 months",
"by means of alglucerase infusions (placental derivative of glucocerebrosidase)"
] | null | [
"thrombocytopenia",
"thrombocytopenia",
"decrease in the leukocyte enzymatic activity"
] | null |
gaucher:9221177 | [Enzyme therapy in children with severe forms of Gaucher's disease]. | [
"The enzyme therapy with Ceredase in patients with Gaucher's disease is at present probably the most expensive treatment in the whole world. One-year treatment of an adult patient with Gaucher's disease costs more than 7 million crowns. Indications for treatment in individual patients as well as financial provision... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme therapy with Ceredase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"severe course of the disease"
] | null | [
"health status of",
"improved",
"growth became normal",
"the spleen diminished in size by 20-35%"
] | [
"enzyme therapy with Ceredase",
"One-year treatment",
"crowns",
"Ceredase"
] | [
"Czech Republic"
] | [
"haematological manifestations of hypersplenism are receding",
"there was a 32-46% decline of the activity of serum chitotriosidase",
"biochemical parameters of the disease improved"
] | null |
gaucher:9028460 | Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient. | [
"Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). We performed P... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disorder",
"Gaucher disease",
"type 1 (nonneuronopathic)",
"type 2 (acute neuronopathic)",
"type 3 (subacute neuronopathic)",
"type 1 Gaucher disease",
"type 1 Gaucher disease",
"moderately severe type 1 Gaucher disease"
] | [
"autosomalrecessive",
"novel mutation",
"is a C insertion in exon 3 at cDNA nucleotide position 122 and genomic nucleotide position 1626",
"mutation causes a frameshift and, subsequently, four of the five codons immediately downstream of the insertion were changed while the sixth was converted to a stop codon... | null | [
"Ceredase therapy"
] | [
"non-Jewish"
] | [
"lysosomal glucocerebrosidase deficiency",
"partial activity"
] | [
"no residual glucocerebrosidase enzyme activity"
] |
gaucher:9059303 | Pulmonary involvement in adult Gaucher's disease: high resolution CT appearance. | [
"High resolution CT findings of pulmonary involvement are described in a patient with adult type Gaucher's disease. Although the reticular pattern on the chest radiograph was typical, appearance of pulmonary involvement on high resolution CT has not been demonstrated in the literature. High resolution CT demonstrat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n High resolution CT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"adult type Gaucher's disease"
] | null | [
"pulmonary involvement",
"reticular pattern on the chest radiograph",
"pulmonary involvement",
"interlobular septal and intralobular interstitial thickening",
"irregular interfaces at the pleural surfaces",
"ground-glass appearance, corresponding to both the alveolar and the interstitial components of the... | null | null | null | null |
gaucher:9003829 | Pseudo-Gaucher's cells in association with common acute lymphoblastic leukemia. | [
"Gaucher-like cells were found in the bone marrow and liver of an Omani teenager who had common acute lymphoblastic leukemia (cALL) confirmed on peripheral blood analysis by the presence of CD10 antigen. Leukocytic or fibroblastic beta-glucocerebrosidase enzyme activity was not measured, but other biochemical data ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher-like cells were found in the bone marrow and liver\n <span style=\"font-size: 0.8em; font-weight: ... | [
"common acute lymphoblastic leukemia (cALL)"
] | null | null | null | [
"Omani"
] | [
"presence of CD10 antigen"
] | [
"Leukocytic or fibroblastic beta-glucocerebrosidase enzyme activity was not measured",
"were not indicative of genuine type 1 Gaucher's disease"
] |
gaucher:8974138 | Dental observations in Gaucher's disease: review of the literature and two case reports with 13- and 60-year follow-ups. | [
"Gaucher's disease is a genetically determined inborn error of metabolism in which acid beta-glucosidase or one of its cofactors is absent or diminished in macrophage cells and cause an accumulation of glucosylceramide in these cells. These Gaucher cells accumulate in the organs of the reticuloendothelial system an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease"
] | [
"genetically determined inborn error of metabolism",
"molecular genetics"
] | [
"splenomegaly",
"hepatomegaly",
"encroachment of the marrow cavity of bones",
"consistent bony changes that result from this encroachment",
"bone degeneration and regeneration",
"bone deposition"
] | [
"oral surgery procedures",
"mannose lectin acid beta-glucosidase, alglucerase",
"allogenic bone marrow transplantation",
"molecularly engineered enzymes"
] | null | [
"acid beta-glucosidase or one of its cofactors is absent or diminished in macrophage cells"
] | [
"visceral signs are not apparent"
] |
gaucher:9122036 | Gammopathy-related crystal-storing histiocytosis, pseudo- and pseudo-pseudo-Gaucher cells. Critical commentary and mini-review. | [
"Commenting on a case report of dermal immunocytoma with crystal-storing histiocytes, a short review is given on the phenomena related to crystallization of monoclonal immunoglobulins within plasma cells, in the extracellular space, or within the lysosomal compartment of macrophages. Paraprotein crystallization is ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Commenting on a case report of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dermal immunocytoma with crystal-storing histiocytes\n <span style=\"font-s... | [
"plasmacytoma",
"immunocytoma",
"Gaucher disease"
] | null | [
"poor solubility in the cold or at acid pH",
"lightmicroscopical and ultrastructural differences to both, Gaucher cells and pseudo-Gaucher cells"
] | null | null | [
"impaired intralysosomal degradation",
"immunoglobulins of light chain type kappa"
] | null |
gaucher:8972767 | A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. | [
"Severe cardiopulmonary amyloidosis developed several months after a total splenectomy in a patient with type 1 Gaucher disease and led within a year to his death at 48 years of age. The autopsy findings were dominated by extensive pulmonary and cardiac amyloid infiltration. No Gaucher cells were found in the lungs... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Severe cardiopulmonary amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Severe cardiopulmonary amyloidosis",
"type 1 Gaucher disease",
"amyloidosis",
"severe cardiopulmonary disease",
"Gaucher"
] | [
"heterozygosity for N370S and D409H mutations"
] | [
"death"
] | [
"total splenectomy"
] | null | [
"glucocerebrosidase deficiency",
"deficient in chitotriosidase, an enzyme whose activity is usually greatly increased in the serum"
] | [
"No Gaucher cells were found in the lungs",
"normal amount of glucocerebrosidase was found in the spleen"
] |
gaucher:9057400 | Clinical and enzyme studies in Gaucher disease. | [
"To study the clinical and biochemical spectrum of Gaucher disease.",
"Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis.",
"Hospital-based.",
"Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay."... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To study the clinical and biochemical spectrum of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-w... | [
"Gaucher disease",
"Gaucher disease",
"type 1",
")",
"type 2 (neuronopathic)",
"Gaucher disease"
] | null | [
"hepatosplenomegaly",
"hepatosplenomegaly"
] | [
"enzyme replacement therapy"
] | [
"Delhi",
"Bombay",
"Delhi",
"Bombay"
] | [
"Assay of beta glucosidase enzyme in leucocytes",
"splenomegaly",
"The enzyme beta-glucosidase was 0.65 nmol/h/mg of protein or less",
"2.5 nmol/h/mg of protein or less",
"increased acid phosphatase"
] | null |
gaucher:8873155 | Gaucher's disease in pregnancy. | [
"Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucocerebrosidase, important for the physiologic recycling of cell membrane lipids. The clinical symptoms and disease presentations of Gaucher's disease are heterogeneous, including hepatosplenomegaly,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"lysosomal storage disease",
"Gaucher's disease",
"Gaucher's disease",
"Type 1 Gaucher's disease",
"type 1",
"Gaucher's disease",
"pregnancy concurrent with Gaucher's disease",
"pregnancy",
"pregnancy concurrent with Gaucher's disease",
"pregnancy"
] | [
"autosomal recessive",
"genetic variability"
] | [
"hepatosplenomegaly",
"bone \"crisis\" and fracture",
"rapid neurological decompensation",
"less severe symptoms",
"postpartum bleeding",
"significant increases in organomegaly",
"increased spontaneous abortion rate"
] | [
"enzyme replacement therapy with alglucerase",
"prenatal diagnosis",
"counseling",
"alglucerase treated Gaucher's disease",
"alglucerase"
] | null | [
"deficiency of the enzyme glucocerebrosidase",
"physiologic recycling of cell membrane lipids",
"anemia",
"thrombocytopenia",
"increased severity of anemia and thrombocytopenia"
] | [
"Without treatment"
] |
gaucher:8836053 | Osteoblastoma of the humerus associated with type-I Gaucher's disease. A case report. | [
"We report a unique case of juxtacortical osteoblastoma of the humeral shaft, which stimulated the appearance of an extraosseous extension of Gaucher-cell deposits. The tumour was treated successfully by curettage and bone grafting. We can find no previous report of this association between osteoblastoma and Gauche... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a unique case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n juxtacortical osteoblastoma of the humeral shaft\n <span style=\"font-size: 0.8... | [
"juxtacortical osteoblastoma of the humeral shaft",
"association between osteoblastoma",
"Gaucher's disease"
] | null | null | [
"curettage and bone grafting"
] | null | null | null |
gaucher:8865521 | Combined hereditary disorders of haemophilia B Leyden (-6 G-->A) and type 1 von Willebrand disease. | [
"Multiple coagulation disorders are unusual. We report here a combination of haemophilia B Leyden with type 1 von Willebrand disease (vWD) affecting different members of the same family. Haemophilia B Leyden was due to a -6 G-->A mutation within the promoter of the factor IX gene and was responsible for a mild haem... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Multiple coagulation disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Multiple coagulation disorders",
"combination of haemophilia B Leyden with type 1 von Willebrand disease (vWD)",
"Haemophilia B Leyden",
"Haemophilia B Leyden",
"mild von Willebrand disease",
"type 1 vWD",
"vWD"
] | [
"a -6 G-->A mutation within the promoter of the factor IX gene",
"carriers of the same -6 G-->A mutation",
"inheritance of"
] | null | null | null | [
"differences in F IX levels",
"increase in factor IX plasma level"
] | [
"asymptomatic"
] |
gaucher:8853914 | Use of various diagnostic methods in a patient with Gaucher disease type I. | [
"A series of plain radiographs, bone scans, bone marrow scans, and MRIs is reported in a patient with Gaucher disease type I, in whom two episodes of acute bone crisis developed during a 6-year period of follow-up. Acute bone crisis and global indolent bone marrow displacement could both be assessed by bone marrow ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A series of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n plain radiographs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Gaucher disease type I",
"Gaucher disease"
] | null | [
"two episodes of acute bone crisis",
"Acute bone crisis",
"global indolent bone marrow displacement",
"corti-comedullary alteration after bone infarction"
] | null | null | null | null |
gaucher:8837283 | Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy. | [
"A 9-year-old patient presented with an acute onset of pain of the right femur showing destructive changes with periosteal elevation mimicking osteomyelitis. Technetium-99m sulfur colloid (99mTc SC) marrow scan revealed lack of uptake in the right femoral head and the entire shaft of the right femur. Eight months f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 9-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"osteomyelitis"
] | null | [
"acute onset of pain of the right femur showing destructive changes with periosteal elevation",
"lack of uptake in the right femoral head and the entire shaft of the right femur",
"almost complete reconstitution of the femoral shaft",
"99mTc SC marrow scan uptake returned to normal"
] | [
"enzyme replacement therapy"
] | null | null | null |
gaucher:8741318 | Improvement of bone disease with increased dose of glucocerebrosidase in a Gaucher disease patient who had a bone lesion presenting during low-dose enzyme replacement therapy. | [
"In recent years, enzyme replacement therapy has been shown to be useful for the treatment of Gaucher disease. A 10 year old Japanese boy with Gaucher disease underwent splenectomy at the age of 5 years and received enzyme replacement therapy from the age of 6 years. He had avascular necrosis of the bilateral femor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In recent years, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Gaucher disease",
"Gaucher disease"
] | null | [
"avascular necrosis of the bilateral femoral heads",
"improvement of the clinical symptoms and bone lesion",
"bone disease",
"bone lesion"
] | [
"enzyme replacement therapy",
"splenectomy",
"received enzyme replacement therapy from the age of 6 years",
"The enzyme dosage was increased from 20 to 120 IU/kg per month",
"enzyme replacement therapy",
"dose increase"
] | [
"Japanese"
] | null | [
"not seen at the beginning of the therapy",
"without deterioration of hematological variables during maintenance therapy"
] |
gaucher:8735762 | Gaucher's disease and pregnancy. | [
"A 24-year-old primigravid woman with adult type Gaucher's disease was admitted at 28 weeks of pregnancy. She was asthenic and the abdomen was markedly protuberant due to hepatosplenomegaly. A conservative approach with close monitorization of both mother and baby was planned. On the 39th week of pregnancy a health... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 24-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"primigravid",
"adult type Gaucher's disease"
] | null | [
"asthenic",
"abdomen was markedly protuberant",
"hepatosplenomegaly",
"mild hematological complications",
"puerperium"
] | [
"28 weeks of pregnancy",
"conservative approach",
"pregnancy",
"healthy female baby of 3000 g was delivered via cesarean section"
] | null | null | [
"uneventful"
] |
gaucher:8641102 | Pseudotumours of hepatic imaging. | [
"The diagnosis of liver tumours with CT depends on differential attenuation coefficients and enhancement patterns. The sensitivity of CT in defining tumours is well established but there remain a variety of conditions that mimic these patterns, presenting a 'pseudotumour' appearance. A common illustrative example i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n liver tumours\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"liver tumours",
"hepatic steatosis",
"sphingolipidoses"
] | null | [
"tumours",
"pseudotumour' appearance",
"intrahepatic arterioportal shunts",
"post-traumatic",
"venous outflow block"
] | null | null | [
"Alpha-1-antitrypsin deficiency",
"hereditary tyrosinaemia"
] | null |
gaucher:8780099 | Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. | [
"Gaucher disease is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme glucocerebrosidase. The prevalence of this disorder differs significantly among various populations and is highest in some Jewish populations. More than 35 disease-producing mutations of the gene have been rep... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"neuronopathic",
"Gaucher disease type 3",
"Gaucher disease",
"Gaucher disease"
] | [
"autosomal recessive",
"disease-producing mutations of the gene",
"change of the amino acid leucine at position 444 to proline (444Leu-->Pro)",
"second mutation at amino acid 370 (370Asn-->Ser)",
"two hitherto unreported mutations in exon 9 (genomic nucleotide 5224G-->C; 417Val-->Leu) and in exon 11 (genomi... | [
"myoclonic epilepsy",
"slight mental disturbances"
] | null | [
"Jewish",
"non-Jewish populations",
"Jewish",
"non-Jewish",
"non-Jewish"
] | [
"deficiency of the enzyme glucocerebrosidase"
] | [
"no mutations within the glucocerebrosidase gene are found"
] |
gaucher:8733893 | Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C. | [
"A patient with type 3 Gaucher disease is described with a novel genotype, D399N/R463C, established by DNA sequencing. This patient was previously reported as having genotype N370S/R463C. This communication now establishes that no patients reported with mutation N370S have the neuronopathic forms of Gaucher disease... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 3 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"type 3 Gaucher disease",
"neuronopathic forms of Gaucher disease"
] | [
"novel genotype, D399N/R463C",
"mutation N370S"
] | null | [
"genetic counseling"
] | null | null | null |
gaucher:8612670 | Scintigraphic findings on 99mTc-MDP, 99mTc-sestamibi and 99mTc-HMPAO images in Gaucher's disease. | [
"Gaucher s disease is an autosomal recessive lysosomal storage disease characterized by the specific deficiency of glucocerebrosidase that leads to accumulation of insoluble glucocerebroside in the reticuloendothelial system, particularly the bone marrow, liver, spleen and lymph nodes. Direct scintigraphic visualiz... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher s disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher s disease",
"lysosomal storage disease",
"Gaucher s disease",
"type 1 Gaucher s disease"
] | [
"autosomal recessive"
] | [
"painful left hip and knee",
"difficulty in gait",
"traumatic fracture of the left femoral neck",
"reduced uptake at the distal metaphyseal-epiphyseal femoral region",
"bone changes",
"to non-target ratios",
"value of 2.25 in the early scan",
"superimposable scintigraphic pattern of accumulation at th... | [
"implant of a fixation screw-plaque",
"i.v. administration of 99mTc-MIBI"
] | null | [
"deficiency of glucocerebrosidase"
] | null |
gaucher:8737974 | Gaucher disease: studies of phenotype, molecular diagnosis and treatment. | [
"This report summarizes the results on 39 patients with Gaucher disease who have been genotyped, evaluated, and/or followed at this center. Mutation analysis for 4 common mutations; N370S, L444P, 84gg and IVS2 (+1), was performed for all patients. Mutation analysis identified both mutant alleles in 69% and at least... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report summarizes the results on 39 patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; f... | [
"Gaucher disease",
"type 1",
"type 2",
"type 3",
"Gaucher disease",
"chronic neuronopathic Gaucher disease",
"non-neuronopathic Gaucher disease",
"type 1"
] | [
"identified both mutant alleles in 69% and at least one mutant allele in 90% of all chromosomes"
] | [
"clinical response",
"positive clinical response to low dose treatment"
] | [
"enzyme replacement therapy (ERT)",
"treated with enzyme replacement therapy (ERT) at a dose of 60 U/kg every 2 weeks",
"17 months of treatment at 60 U/kg every 2 weeks",
"dose was increased to 60 U/kg every week",
"treatment at 15 U/kg every 2 weeks",
"lower dose"
] | null | null | [
"no progression of neurologic involvement",
"unusually delayed response to ERT",
"No clinical response was noted"
] |
gaucher:8737728 | Bone involvement in Gaucher's disease: 'bone crisis' or disease complication? | [
"Bone involvement can represent the inaugural symptom of Gaucher's disease (GD). Here, we report the case of a 68-year old man diagnosed as having GD since 1963. In June 1994 the patient was referred to our Rheumatology Unit because of a long-lasting coxalgia on the left hip and progressive walking impairment follo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Gaucher's disease (GD)",
"GD",
"osteonecrosis of the femoral head",
"multiple myeloma",
"GD"
] | null | [
"Bone involvement",
"long-lasting coxalgia on the left hip",
"progressive walking impairment",
"traumatic fracture of the left femur",
"Multicystic osseous changes",
"increased uptake in the distal left femur and proximal tibia",
"another femoral fracture at a site of Gaucher's infiltrates",
"serious ... | null | null | [
"hyper-gamma-globulinemia",
"elevated ESR (122 mm, 1st hour)"
] | null |
gaucher:8929950 | The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. | [
"It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It has recently been emphasised that a subset of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 Gaucher disease\n <span style=\"font... | [
"type 2 Gaucher disease",
"Gaucher disease"
] | [
"null allele Gaucher mouse"
] | [
"severe clinical course and pathology",
"early death"
] | null | [
"Afghani"
] | [
"glucocerebrosidase RNA was present",
"absence of glucocerebrosidase activity"
] | [
"virtually no glucocerebrosidase cross reactive material on western analyses"
] |
gaucher:9033764 | [Acute interstitial nephritis. Role of ceftazidime]. | [
"A 22-year-old man treated with ceftazidime-amikacine for a Pseudomonas aeruginosa pneumonia, experienced two days later allergic symptoms, acute renal failure and urinary sediment abnormalities. The renal biopsy showed an acute interstitial nephritis. Basophils stimulation test was positive for ceftazidime. Early ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 22-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Pseudomonas aeruginosa pneumonia",
"acute interstitial nephritis"
] | null | [
"allergic symptoms",
"acute renal failure",
"urinary sediment abnormalities",
"complete recovery of renal function"
] | [
"treated with ceftazidime-amikacine",
"discontinuation of"
] | null | null | null |
gaucher:8936012 | Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation. | [
"We report a 10-month-old male infant with Type 2 Gaucher's disease. In addition to gradual arrest of neurological development, laryngospasm, opisthotonus, and limb rigidity, he presented characteristic oculomotor apraxia. History taking revealed that he had had abnormal horizontal gaze and had to turn his head to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 10-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Type 2 Gaucher's disease",
"Gaucher's disease",
"Gaucher"
] | [
"homozygote for T1448C mutation",
"T1448C gene"
] | [
"gradual arrest of neurological development",
"laryngospasm",
"opisthotonus",
"limb rigidity",
"oculomotor apraxia",
"abnormal horizontal gaze",
"eyes were in a divergent position",
"deep coma",
"consciousness improved",
"comatose stage"
] | [
"prenatal diagnosis"
] | [
"Chinese",
"Chinese"
] | [
"leukocyte glucocerebrosidase activity was very low"
] | [
"had to turn his head to follow an object instead of moving the eyes alone",
"could open eyes with neutral eye position",
"impairment of reflex saccades",
"doll's eye phenomenon was not reliable in evaluating the brainstem function"
] |
gaucher:8829654 | Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. | [
"Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase. Over 40 missense, nonsense, and more complex alleles have been described, primarily in Western populations. From these results, predictive genotype/phenotype correlations have ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher Disease type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher Disease type 1",
"lysosomal disease",
"Gaucher disease",
"Gaucher Disease",
"Gaucher type 1"
] | [
"missense, nonsense",
"more complex alleles",
"new Gaucher disease mutations",
"disease alleles",
"V15L, G46E, and N188S substitutions",
"G46E",
"the N188S allele",
"ancient mutation"
] | null | [
"genetic counseling"
] | [
"Caucasians",
"Western",
"Japanese",
"Korean",
"Chinese",
"Taiwanese",
"Korean",
"Chinese (Taiwanese",
"Korean",
"Korean and Chinese (Taiwanese) populations",
"Korean",
"Chinese (Taiwanese"
] | [
"defects in the activity of acid beta-glucosidase",
"dysfunctional acid beta-glucosidases"
] | null |
gaucher:8683874 | [Gaucher disease type 1, incidentally found on a periodic physical examination]. | [
"A 33-year-old man was admitted to our hospital because of thrombocytopenia found on a periodic physical examination. Splenomegaly was recognized Peripheral blood showed WBC 4,510/microliters, Hb 12.5 g/dl, and Plt 40,000/microliters. Increased serum levels of acid phosphatase and angiotensin converting enzyme were... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 33-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease type 1"
] | [
"glucocerebrosidase genotype was T1448C/C1504T (L444P/R463C)"
] | null | null | null | [
"thrombocytopenia",
"Splenomegaly",
"Peripheral blood showed WBC 4,510/microliters, Hb 12.5 g/dl, and Plt 40,000/microliters",
"Increased serum levels of acid phosphatase and angiotensin converting enzyme",
"Decreased beta-glucosidase activity was demonstrated in blood leukocytes, cultured blood lymphocytes... | [
"neurological examination and skeletal X ray results were normal"
] |
gaucher:8750640 | Complex IgA gammopathy in Gaucher's disease. | [
"A 55-year-old Jewish patient was simultaneously diagnosed as having Gaucher's disease and IgA multiple myeloma. Serum protein electrophoresis and immunoelectrophoresis showed two different IgA kappa type monoclonal spikes. After four years of observation, a rapid fatal course of disease developed together with exp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 55-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease",
"IgA multiple myeloma",
"dysproteinaemias",
"multiple myeloma",
"Gaucher's",
"complex gammopathy"
] | null | [
"rapid fatal course of disease"
] | null | [
"Jewish"
] | [
"two different IgA kappa type monoclonal spikes",
"expression of J chain protein",
"additional IgA lambda paraprotein"
] | null |
gaucher:8750303 | Prenatal molecular diagnosis of Gaucher disease. | [
"Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Prenatal diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"glycolipid storage disease",
"Gaucher disease"
] | null | null | null | null | null | null |
gaucher:8584941 | [Repeat fracture of the femur shaft in Gaucher disease]. | [
"A case of pathologic femoral fracture in a patient with Gaucher's disease is presented. The fracture occurred at the site of bioptic trepanation performed 1 month previously. After fracture healing and removal of a Küntscher nail, pathologic fracture recurred at the same site. The paper emphasizes the value of \"b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pathologic femoral fracture\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"pathologic femoral fracture",
"fracture occurred at",
"pathologic fracture recurred at the same",
"preservation of compromised blood flow in the bones"
] | [
"bioptic trepanation",
"fracture healing",
"removal of a Küntscher nail",
"\"biological\" internal fixation"
] | null | null | null |
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