10: Types A and B Niemann–Pick Disease
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Type A A 3-month-old previously well boy was noted to have hepatosplenomegaly during a routine pediatric visit. Over the next several months, the infant acquired developmental milestones appropriately and learned how to roll over, vocalize, and sit with support. By 10 months of age his abdomen was markedly enlarged, and the extremities appeared thin. Over…
MedRewind - #132 Niemann-Pick disease (Types A and B) : caused by the inability to degrade sphingomyelin due to a deficiency of sphingomyelinase, a type of phospholipase C. In the severe infantile
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Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
PDF) Niemann Pick Disease Type A in an Infant: A Case Report
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Niemann-Pick Disease, Types A and B
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Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts
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