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"Niemann-Pick" "disease," type B
- ... 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 ...
- ... 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 ...
- ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/niemann-pick-disease-type-c ... by age 2 or 3. Those with type B may live into late childhood or ... into their mid-to-late teens. Some may live into their 20s.
- ... 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 ...
- Niemann-Pick Disease (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 ...
- Lipid Storage Diseases (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
- ... 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 ...
- Volunteer Stories (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 ...