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, Types A and B

Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library

Recommendations on the diagnosis and management of Niemann-Pick disease type C - ScienceDirect

Morbidity and mortality in type B Niemann–Pick disease

Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice

Niemann-Pick Disease Concise Medical Knowledge

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

Solved Niemann-Pick disease type C is an autosomal recessive

Hyperlipidemia as a Complication of Niemann-Pick Type B Disease - M. Filling-Katz, J.K. Fink, K.L. Oliver, C. Kaneski, H.F. Merrick, C.E. Argoff, N. Barton, R.O. Brady, R.E. Gregg, 1990

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Niemann Pick Disease Type C - Symptoms, Causes, Treatment

Niemann Pick Disease - Rivin

Imaging manifestations of Niemann-Pick disease type B.