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Results 1 - 8 of 8 for "Niemann-Pick" "disease," type D
  1. Niemann-Pick disease 
    ... affected French-Acadians were previously designated as having Niemann-Pick disease type D, however, it was shown that these individuals have ... Niemann-Pick disease, type C2 Genetic Testing Registry: Niemann-Pick disease, type D Genetic Testing Registry: ... lipidosis Chronic visceral ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  2. 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
  3. 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
  4. NPC1 gene 
    ... Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. Citation on PubMed or Free article ... disease genes; regulators of cellular cholesterol homeostasis. Trends ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics
  5. NPC2 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/npc2 - Genetics
  6. Niemann-Pick disease 
    ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/niemann-pick-disease-type-c
    https://medlineplus.gov/ency/article/001207.htm - Medical Encyclopedia
  7. SMPD1 gene 
    ... brain, lungs, spleen, and liver in people with Niemann-Pick disease types A and B. More About This Health Condition ... Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  8. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... of glycosylation , also called PMM2 -CDG Cystic fibrosis D-bifunctional protein ... Nijmegen breakage syndrome Nonsyndromic hearing loss Pendred ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics