10: Types A and B Niemann–Pick Disease

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…

Niemann-Pick Disease Concise Medical Knowledge

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Niemann-Pick disease type C as a neurovisceral disease. Schematic

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management, BMC Medical Genetics

From genes to hope

Imaging manifestations of Niemann-Pick disease type B.

Niemann-Pick disease types A and B (NORD): Video

Niemann-Pick disease type C as a neurovisceral disease. Schematic

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Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management, BMC Medical Genetics

TYPE B NIEMANN-PICK DISEASE: REPORT OF A CASE WITH

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

Morbidity and mortality in type B Niemann–Pick disease

Frontiers Lysosomal and Mitochondrial Liaisons in 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