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Results 1 - 4 of 4 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. 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
  4. 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