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…

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

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A Case Report and Review of Literature

Niemann-Pick Diseases - NPUK

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

Prevalence of dysphagia in Niemann-Pick disease type C (NP-C) and other

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

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

Frontiers Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

Imaging Manifestations of Niemann-Pick Disease Type B

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

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

Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation - ScienceDirect

Niemann Pick Disease Type A and Type B - causes, symptoms, diagnosis, treatment, pathology