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Results 1 - 10 of 14 for "Sphingomyelin/cholesterol" lipidosis
  1. ... Neuronal cholesterol lipidosis Neuronal lipidosis NPD Sphingomyelin lipidosis Sphingomyelin/cholesterol lipidosis Sphingomyelinase deficiency Genetic Testing Registry: Niemann-Pick disease, ...
  2. Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called ... organizations can provide support and more information on ... National Institute of Neurological Disorders and Stroke -- www. ...
  3. 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. ...
  4. ClinicalTrials.gov: Niemann-Pick Diseases From the National Institutes of Health (National Institutes of Health)  
    Genetic Brain Disorders/Clinical Trials ... Genetic Brain Disorders ... National Institutes of Health ... From the National Institutes of Health
  5. ... the NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is characterized by a buildup of fat within ... feeding problems. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein activity, ...
  6. ... the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a buildup of fat within ... causing the tissue and organ damage seen in Niemann-Pick disease type C1. More About This Health Condition Niemann- ...
  7. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Leukodystrophies/Specifics ... Leukodystrophies ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid ...
  8. ... the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann-Pick disease are characterized by a buildup of fat within ...
  9. Lipid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
  10. Volunteer Stories From the National Institutes of Health (National Institutes of Health)  
    Clinical Trials/Specifics ... Clinical Trials ... National Institutes of Health ... Comments from volunteers participating in clinical trials and from researchers conducting ...
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