Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Lesch-Nyhan Syndrome Information Page Publications Organizations News Research literature Clinical Trials Lesch-Nyhan syndrome ... [... more]
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Mitochondrial Myopathies
Mitochondrial Myopathies Information Page Publications Organizations News Research literature Clinical Trials Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria-small, energy-producing structures ... [... more]
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Gangliosidoses
Gangliosidoses information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Gangliosidoses Information Page Publications Organizations News Research literature Clinical Trials The gangliosidoses are a group of ... [... more]
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Farber's Disease
Farber's disease (ceramidase deficiency) information compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Farber's Disease Information Page Publications Organizations News Research literature Clinical Trials Farber's ... [... more]
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Acid Lipase Disease
Information on acid lipase disease (Wolman's disease or cholesterol ester storage disease) compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Acid lipase disease occurs when the enzyme needed to break down certain ... [... more]
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Mucopolysaccharidoses
Mucopolysaccharidoses (MPS) fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Download Adobe Reader Condensed from Mucopolysaccharidoses Fact Sheet The mucopolysaccharidoses are a group of inherited ... [... more]
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Barth Syndrome
Barth syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Barth Syndrome Information Page Publications Organizations News Research literature Clinical Trials Barth syndrome is a rare ... [... more]
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Mucolipidoses
Mucolipidosis information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Download Adobe Reader Condensed from Mucolipidoses Fact Sheet The mucolipidoses occur only when a child inherits two copies of the ... [... more]
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Pompe Disease
Pompe disease-related neurological problems information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Pompe Disease Information Page Publications Organizations News Research literature Clinical ... [... more]
NINDS |
Mucopolysaccharidoses Fact Sheet
The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells ... [... more]
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Lipid Storage Diseases Fact Sheet
Lipid Storage Diseases Information Page Publications Organizations News Research literature Clinical Trials Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials called ... [... more]
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Mucolipidoses Fact Sheet
Patients with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, which are proteins, lysosomes cannot break down ... [... more]
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