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Results 1 - 7 of 7 for "Niemann-Pick" "disease," type B
  1. Niemann-Pick disease 
    ... A generally do not survive past early childhood.Niemann-Pick disease type B usually presents in mid-childhood. The signs and ... type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  2. SMPD1 gene 
    ... an enzyme that retains some activity often cause Niemann-Pick disease type B. A reduction in enzyme activity within cells allows ... brain, lungs, spleen, and liver in people with Niemann-Pick disease types A and B. More About This Health Condition acid sphingomyelinase ASM ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  3. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid ...
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  4. Niemann-Pick disease 
    ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/niemann-pick-disease-type-c/ ... 25% chance that their child will have the disease and a 50% chance that ... are available. Genetic defects have been identified in ...
    https://medlineplus.gov/ency/article/001207.htm - Medical Encyclopedia
  5. NPC2 gene 
    ... Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. Niemann-Pick disease type C ... Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M. Disease and ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
  6. NPC1 gene 
    ... the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is ... causing the tissue and organ damage seen in Niemann-Pick disease type C1. More About This Health Condition Niemann-Pick ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics
  7. 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 ...
    https://www.nih.gov/.../personal-stories - External Health Links