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Results 1 - 4 of 4 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. 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
  3. 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
  4. 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