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…

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

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

PDF) Niemann Pick Disease Type A in an Infant: A Case Report

Imaging manifestations of Niemann-Pick disease type B.

PDF] The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR), Orphanet Journal of Rare Diseases

Cureus, Niemann-Pick Disease: A Case Report and Literature Review

Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease - ScienceDirect

From genes to hope

Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases

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