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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…
Morbidity and mortality in type B Niemann–Pick disease
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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Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
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Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Recommendations on the diagnosis and management of Niemann-Pick disease type C - ScienceDirect
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Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016 - Journal of Neurochemistry - Wiley Online Library
Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A Case Report and Review of Literature
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