Split (1)

train · 11.8k rows

data stringlengths 25 1.5k
3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, ...
Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. Recycling purines ensures that cells have a pl...
How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, ...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block...
Diffuse gastric cancer or signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric c...
How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of sympto...
Alagille syndrome occurs in about one of every 30,000 live births.3 The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences. JAG1 and NOTCH2 gene mutations are inherited in an autosomal dominant way, which means a child can get Alagille syndrome by inheriting ei...
Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding...
When this condition is caused by mutations in the FLCN gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, a person inherits the FLCN gene mutation from an affected parent. People who have an FLCN gene mutation...
Approximately 5,000 new cases of GIST are diagnosed in the United States each year. However, GISTs may be more common than this estimate because small tumors may remain undiagnosed.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the...
Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance. In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one a...
The inheritance pattern of androgenetic alopecia is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having a close relative with patterned hair loss appears to be a risk factor for developing the condition.
FENIB results from mutations in the SERPINI1 gene. This gene provides instructions for making a protein called neuroserpin, which is found in nerve cells (neurons). Neuroserpin plays a role in the development and function of the nervous system. This protein helps control the growth of neurons and their connections with...
How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective ...
Majeed syndrome results from mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 also may be inv...
Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in ...
X-linked Hypophosphatemia (XLH) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. XLH is usually diagnosed in childhood, and clinic...
These resources address the diagnosis or management of prostate cancer: - American College of Radiology: Prostate Cancer Radiation Treatment - Genetic Testing Registry: Familial prostate cancer - Genetic Testing Registry: Prostate cancer, hereditary, 2 - MedlinePlus Encyclopedia: Prostate Brachytherapy - MedlinePl...
An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including "acantholytic", "epidermolytic", "clear cell", and "melanoacanthoma". Though most individuals have only one acanthoma, there have been rare reports of individuals who have develop...
Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. The GNS, HGSNAT, NAGLU...
Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf. Type 2 is one the most common forms of Waardenburg syndrome, along with...
What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating m...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of hyperphosphatemic familial tumoral calcinosis: - Genetic Testing Registry: Tumoral calcinosis, familial, hyperphosphatemic These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ...
Having colitis or certain liver diseases can increase the risk of bile duct cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Langer mesomelic dysplasia results from changes involving the SHOX gene. The protein produced from this gene plays a role in bone development and is particularly important for the growth and maturation of bones in the arms and legs. The most common cause of Langer mesomelic dysplasia is a deletion of the entire SHOX ge...
Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean. Sickle cell dis...
Symptoms usually progress slowly. By age 65, the majority of persons with CADASIL have cognitive problems and dementia. Some will become dependent due to multiple strokes.
What are the signs and symptoms of Hemangioma thrombocytopenia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangioma thrombocytopenia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can...
The symptoms of MMA usually progress slowly for one to two years before reaching a plateau, and then remain stable for many years. Disability is generally slight. Rarely, the weakness progresses to the opposite limb. There is also a slowly progressive variant of MMA known as O'Sullivan-McLeod syndrome, which only affec...
The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quar...
Eating, diet, and nutrition have not been shown to play a role in causing or preventing hematuria.
There are a variety of treatments for sleep apnea, depending on an individuals medical history and the severity of the disorder. Most treatment regimens begin with lifestyle changes, such as avoiding alcohol and medications that relax the central nervous system (for example, sedatives and muscle relaxants), losing weig...
Approximately 100 individuals with eosinophil peroxidase deficiency have been described in the scientific literature. Based on blood test data, varying estimates of the prevalence of the condition have been reported in specific populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in 1,000 Yemenite...
Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardi...
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a sma...
Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and symptoms...
Kyrle disease is a skin disease characterized by the formation of large papules and is often associated with underlying hepatic, renal or diabetic disorders. It can affect both men and women throughout life, although the average age of onset is 30 years. Lesions typically begin as small papules with silvery scales that...
X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 males, although it is likely that this condition is underdiagnosed. The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in 4,000 ...
Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. In the remaining cases, people with ...
The NINDS supports research on disorders of the brain such as agnosia with the goal of finding ways to prevent or cure them.
The pancreas is a gland behind your stomach and in front of your spine. It produces juices that help break down food and hormones that help control blood sugar levels. Problems with the pancreas can lead to many health problems. These include - Pancreatitis, or inflammation of the pancreas: This happens when dige...
Research is ongoing on Parkinson's and Alzheimer's diseases. Better understanding of those common, related disorders will go a long way toward solving the problem of PSP, just as studying PSP may help shed light on Parkinson's and Alzheimer's diseases.
How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases resu...
Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in the medical literature.
Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor gro...
Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body...
Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weak...
Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans.
PPRD is caused by mutations in the WISP3 gene. The function of the protein produced from this gene is not well understood, although it is thought to play a role in bone growth and cartilage maintenance. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage. This protein is associa...
How is succinic semialdehyde dehydrogenase deficiency inherited? Succinic semialdehyde dehydrogenase deficiency (SSADH) is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy ...
Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia.
These resources address the diagnosis or management of focal dermal hypoplasia: - Gene Review: Gene Review: Focal Dermal Hypoplasia - Genetic Testing Registry: Focal dermal hypoplasia - MedlinePlus Encyclopedia: Ectodermal dysplasia - MedlinePlus Encyclopedia: Omphalocele These resources from MedlinePlus offer in...
In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear. People with...
To prevent bronchiectasis, it's important to prevent the lung infections and lung damage that can cause it. Childhood vaccines for measles and whooping cough prevent infections related to these illnesses. These vaccines also reduce complications from these infections, such as bronchiectasis. ...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heav...
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the EBP gene in each cell is sufficient to cause the disorder. Som...
These resources address the diagnosis or management of inclusion body myopathy 2: - Gene Review: Gene Review: GNE-Related Myopathy - Genetic Testing Registry: Inclusion body myopathy 2 - Genetic Testing Registry: Nonaka myopathy These resources from MedlinePlus offer information about the diagnosis and management ...
Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert s...
Quitting smoking not only cuts the risk of lung cancer, it cuts the risks of many other cancers as well as heart disease, stroke, other lung diseases, and other respiratory illnesses. Each U.S. state and territory has a free quitline to provide you with information and resources to help you quit smoking. To reach the q...
What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incid...
How might Troyer syndrome be treated? There are currently no treatments known to prevent or slow the progression of Troyer syndrome. Treatment aims to relieve symptoms of the disease and improve quality of life. Treatment for spasticity involves both exercise and medication, especially baclofen (Lioresal), which is use...
Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that re...
What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in peopl...
What are the signs and symptoms of Sarcosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ...
Summary : A hurricane is a severe type of tropical storm. Hurricanes produce high winds, heavy rains and thunderstorms. Hurricanes can cause tremendous damage. Winds can exceed 155 miles per hour. Hurricanes and tropical storms can also spawn tornadoes and lead to flooding. The high winds and heavy rains can destroy bu...
All kids misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth of a sibling, a divorce, or a death in the family may cause a child to act out. Behavior disorders are more serious. They involve a pattern of hostile, aggressive, or disruptive behaviors for more than 6 m...
How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency...
How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potentia...
Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the ti...
Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemica...
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on th...
Oral-facial-digital syndrome type I is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause ...
Acinetobacter [asz−in−ée−toe–back−ter] is a group of bacteria commonly found in soil and water. While there are many types or “species” of Acinetobacter and all can cause human disease, Acinetobacter baumannii [asz−in−ée−toe–back−ter boe-maa-nee-ie] accounts for about 80% of reported infections. Outb...
The prognosis depends upon the type of swallowing problem and the course of the neurological disorder that produces it. In some cases, dysphagia can be partially or completely corrected using diet manipulation or non-invasive methods. In others, especially when the dysphagia is causing aspiration and preventing adequat...
These resources address the diagnosis or management of achondroplasia: - Gene Review: Gene Review: Achondroplasia - GeneFacts: Achondroplasia: Diagnosis - GeneFacts: Achondroplasia: Management - Genetic Testing Registry: Achondroplasia - MedlinePlus Encyclopedia: Achondroplasia - MedlinePlus Encyclopedia: Hydroce...
The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine away from the bladder and out of the body. A young man's prostate is about the size of a walnut. It slowly grows larger with age. If it gets too large, it can cause problems. This is ve...
How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it...
Mineral and bone disorder in CKD occurs when damaged kidneys and abnormal hormone levels cause calcium and phosphorus levels in a persons blood to be out of balance. Mineral and bone disorder commonly occurs in people with CKD and affects most people with kidney failure receiving dialysis. In the past,...
These resources address the diagnosis or management of progressive pseudorheumatoid dysplasia: - Cedars-Sinai: Skeletal Dysplasias - Gene Review: Gene Review: Progressive Pseudorheumatoid Dysplasia - Genetic Testing Registry: Progressive pseudorheumatoid dysplasia These resources from MedlinePlus offer information...
Progressive hemifacial atrophy, or Parry-Romberg syndrome, is a condition that causes the breakdown of the skin and soft tissues of half of the face. Symptoms and severity vary from person to person. This condition tends to begin in childhood between the ages of 5 and 15 years, and worsen over the course of 2 to 10 yea...
Stuttering is a problem that affects the flow of your speech. If you stutter, you may - Make certain words sound longer than they should be - Find it hard to start a new word - Repeat words or parts of words - Get tense when you try to speak. You may blink your eyes rapidly, or your lips and jaw m...
What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. Because bird...
How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the h...
As children with Dravet syndrome get older, their decline in cognitive function stabilizes, and in many, it improves slightly. However, most teenagers with Dravet syndrome are dependent on caregivers. The degree of cognitive impairment appears to correlate with the frequency of seizures.
These resources address the diagnosis or management of Menkes syndrome: - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Genetic Testing Registry: Menkes kinky-hair syndrome - MedlinePlus Encyclopedia: Copper in diet - MedlinePlus Encyclopedia: Menkes syndrome These resources from MedlinePlu...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What are the signs and symptoms of Long QT syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction...
People who choose Original Medicare may wish to consider Medigap, a type of Medicare supplement insurance. Medigap policies are sold by private insurance companies to fill gaps in Original Medicare Plan coverage, such as out-of-pocket costs for Medicare co-insurance and deductibles, or for services not covered by Medic...
Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in t...
How is citrullinemia type I inherited? Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs an...
Summary : Health literacy refers to how well a person can get the health information and services that they need, and how well they understand them. It is also about using them to make good health decisions. It involves differences that people have in areas such as - Access to information that they can understand...
These resources address the diagnosis or management of MCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Medium-chain acyl-coenzyme A dehydrogenase deficiency - MedlinePlus Encyclopedia: Newborn Screening Tests These ...
These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts: - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts - Genetic Testing Registry: ...

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.