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Results 1 - 10 of 23 for "Sphingomyelin/cholesterol" lipidosis
  1. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
  2. Genetics Home Reference: Niemann-Pick disease From the National Institutes of Health (National Library of Medicine)  
    ... Niemann-Pick disease type C2 Genetic Testing Registry: Sphingomyelin/cholesterol lipidosis MedlinePlus Encyclopedia: Niemann-Pick You might also find ...
  3. Niemann-Pick Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    NINDS Niemann-Pick Disease Information Page Table of Contents (click to jump to sections) What is Niemann-Pick Disease? Is there ... is being done? Clinical Trials Organizations What is Niemann-Pick Disease? Niemann-Pick disease (NP) refers to a group ...
  4. National Niemann-Pick Disease Foundation (National Niemann-Pick Disease Foundation)  
    ... Member Visit the Newsline to read the article. . Niemann-Pick Disease Research ~ February 2014 ~ Dr. Forbes "Denny" Porter National ... the Info You Need? Here It Is! International Niemann-Pick Disease Organizations Research News & Announcements: Fellowships and Grants 2014 ...
  5. Niemann-Pick disease is a group of diseases passed down through families (inherited) in which fatty substances called lipids ... Niemann-Pick disease types A and B occur when cells in the body do not have an enzyme called ...
  6. ClinicalTrials.gov: Niemann-Pick Diseases From the National Institutes of Health (National Institutes of Health)  
  7. ... Swelling of the liver and spleen Mental disability Niemann-Pick Disease Type A Niemann-Pick disease type A appears in the first months after ... Type A is the most severe form of Niemann-Pick disease, and children with this disease often do not ...
  8. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... patients with types 2 and 3 Gaucher disease. Niemann-Pick disease is actually a group of autosomal recessive disorders ... of the retina in 50 percent of patients. Niemann-Pick disease is currently subdivided into four categories. Onset of ...
  9. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    ... replacement therapies. There is currently no cure for Niemann-Pick disease. Treatment is supportive. Doctors often prescribe corticosteroids to ... may live well into adulthood, while children with Niemann-Pick disease most often die at a young age from ...
  10. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
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