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Results 1 - 8 of 8 for "Niemann-Pick" "disease," type C
  1. Niemann-Pick disease 
    ... in either the NPC1 or NPC2 gene cause Niemann-Pick disease type C. The proteins produced from these genes are involved ... Niemann-Pick disease, type B Genetic Testing Registry: Niemann-Pick disease, type C Genetic Testing Registry: Niemann-Pick disease, type C2 ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  2. Volunteer Stories From the National Institutes of Health (National Institutes of Health)  
    Clinical Trials/Specifics ... Clinical Trials ... National Institutes of Health ... From the National Institutes of Health ... Comments from volunteers participating in clinical ...
    https://www.nih.gov/.../personal-stories - External Health Links
  3. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  4. NPC2 gene 
    ... Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J ... Honore R, Vanier MT, Millat G. Niemann-Pick C disease: functional ... protein deficient in Niemann-Pick type C2 disease. J Biol Chem. 2007 Aug 10; ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
  5. Niemann-Pick disease 
    ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/niemann-pick-disease-type-c ... or adulthood. A child who shows signs of type C before age 1 may not ... into their mid-to-late teens. Some may live into their 20s.
    https://medlineplus.gov/ency/article/001207.htm - Medical Encyclopedia
  6. NPC1 gene 
    ... Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics
  7. Niemann-Pick Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Lipid Metabolism Disorders/Specifics ... Lipid Metabolism Disorders ... National Institute of Neurological ...
    https://www.ninds.nih.gov/.../disorders/niemann-pick-disease - External Health Links
  8. SMPD1 gene 
    ... RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics. ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics