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doc1 | Abstract Gaucher disease, an autosomal recessively inherited lysosomal storage disorder, results from biallelic mutations in the GBA1 gene resulting in deficient activity of the enzyme glucocerebrosidase. In Gaucher disease, the reduced levels and activity of glucocerebrosidase lead to a disparity in the rates of forma... |
doc2 | Background Gaucher’s disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone infarction, thereby culminating in a marked deterioration of patients’ quality of life (QoL). Patie... |
doc3 | What is Gaucher disease? Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver. This can cause many di... |
doc4 | Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures. If th... |
doc5 | Gaucher disease is an autosomal recessive disease and the most prevalent lysosomal storage disorder with an incidence of about 1 in 20,000 live births. Despite the fact that GD consists of a phenotypic spectrum with varying degrees of severity, it has been subdivided in three subtypes according to the presence or absen... |
doc6 | Abstract Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60... |
doc7 | Abstract Incidence and prevalence estimates for Gaucher disease (GD) are scarce for this rare disease and can be variable within the same region. This review provides a qualitative synthesis of global GD incidence and prevalence estimates, GD1–3 type-specific and overall, published in the last 10 years. A targeted lite... |
doc8 | Genetic Research on Gaucher Disease Gaucher disease results from a mutation on the glucocerebrosidase (GCase) gene, causing low GCase enzyme activity. GCase enzyme breaks down glucocerebroside, a fatty chemical that builds up in the bodies of patients with Gaucher disease. New research on the genetics of Gaucher diseas... |
doc9 | ABSTRACT Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent aspects of GD and a major cause of pain, disability, and reduced quality of life. Uniform recommendations for contemporary evalua... |
doc10 | Abstract Background Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high resting energy expenditures, peripheral insulin resistance, hypoadiponectinaemia, leptin an... |
doc11 | What is Gaucher disease? Gaucher disease (pronounced “go-shay”) is an inherited lysosomal storage disorder (LSD), a type of disease that causes fatty substances (sphingolipids) to build up in your bone marrow, liver and spleen. The sphingolipids weaken bones and enlarge your organs, so they can’t work as they should. T... |
doc12 | What Is Gaucher Disease? Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. A person will get Gaucher Disease if both parents are carriers of the disease. It is one of the most common lysosomal storage disorders. What Causes Gaucher Disease? Gau... |
doc13 | Disease Overview Gaucher Disease (GD) is a lysosomal disorder characterized by an enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets (thrombocytopenia) and skeletal abnormalities. In some forms of GD, the nervous system is primarily affected. T... |
doc14 | Description Collapse Section Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher di... |
doc15 | Summary Clinical characteristics. Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis a... |
doc16 | Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease. It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the disease gene to their child in order for the chi... |
doc17 | Overview Gaucher disease is a rare, inherited disorder that causes fatty substances to build up in the spleen, liver, and other organs. Finding a doctor to diagnose Gaucher disease can sometimes be a frustrating experience for patients. They typically go from one specialist to another and get sicker and sicker as the d... |
doc18 | Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body needs to break down a particular kind of fat called glucocerebroside. In people with Gaucher disease, the body is not able to properly produc... |
doc19 | Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, an... |
doc20 | Summary Epidemiology The prevalence is approximately 1/100,000. The annual incidence of GD in the general population is about 1/60,000, but it can reach up to 1/1,000 in Ashkenazi Jewish populations. Clinical description The clinical manifestations of this disease are highly variable. GD type 1 (90% of cases) is the ch... |
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