Genetic Brain Disorders
GLUT1 deficiency syndrome GM2-gangliosidosis, AB variant Niemann-Pick disease 2-hydroxyglutaric aciduria abetalipoproteinemia aromatic l-amino acid decarboxylase deficiency Fabry disease Gaucher disease glutaric acidemia type I Lesch-Nyhan ... [... more]
Genetics Home Reference |
It's hurricane and tropical storm season. Learn more:
MedlinePlus Health Information from the National Library of Medicine Start here with 750 topics on conditions, diseases and wellness About your prescription and over-the-counter medicines, herbs and supplements A service for finding local ... [... more]
|
Fabry disease
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of ... [... more]
Genetics Home Reference |
Zellweger syndrome
Zellweger syndrome is a rare hereditary disorder affecting infants, and usually results in death. Unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blood, and vision disturbances are among the ... [... more]
Center for Biotechnology Information |
Galactosemia
Galactosemia, Pediatric Liver Disease, Genetic Disorders, Nutrition Explore this section to learn more about Galactosemia, including a description of the disease and how it's diagnosed. Galactosemia is an inherited disorder that prevents a person ... [... more]
Liver Foundation |
Tyrosinemia
Tyrosinemia is a hereditary inborn error of metabolism that causes severe liver disease in infancy. Affected persons commonly develop cirrhosis of the liver and will eventually require liver transplantation to survive. The gene defect for ... [... more]
Save Babies Through Screening |
Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Gerstmann-Straussler-Scheinker Disease Information Page Publications Organizations News Research literature ... [... more]
NINDS |
Niemann-Pick Disease
Niemann-Pick disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Niemann-Pick Disease Information Page Publications Organizations News Research literature Clinical Trials Niemann-Pick disease ... [... more]
NINDS |
GARD & Rare Diseases Information Center
Welcome to the Genetic and Rare Diseases Information Center (GARD), a collaborative effort of two agencies of the National Institutes of Health The Office of Rare Diseases and the National Human Genome Research Institute to help people find ... [... more]
rarediseases.info.nih.gov |
It's hurricane and tropical storm season. Learn more:
MedlinePlus Health Information from the National Library of Medicine Start here with 750 topics on conditions, diseases and wellness About your prescription and over-the-counter medicines, herbs and supplements A service for finding local ... [... more]
medlineplus.gov |
National Institutes of Health (NIH) - Home Page
Official website of the National Institutes of Health (NIH). NIH is one of the world's foremost medical research centers. An agency of the U.S. Department of Health and Human Services, the NIH is the Federal focal point for health research. The ... [... more]
|
Promoting Research &
The National Niemann-Pick Disease Foundation supports and promotes research to find treatments and a cure for all types of Niemann-Pick Disease, and we provide support services for individuals and families affected by NPD. Our Vision...is a world ... [... more]
nnpdf.org |
