10: Types A and B Niemann–Pick Disease
Descrição
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…
Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management, BMC Medical Genetics
Niemann Pick Disease - Rivin
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet
Niemann–Pick disease - Wikipedia
Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders
Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene - Yuta Takaichi, James K. Chambers, Mun Keong Kok, Hiroki Uchiyama, Makoto Haritani, Daisuke Hasegawa, Hiroyuki Nakayama, Kazuyuki Uchida, 2020
Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A Case Report and Review of Literature
10: Types A and B Niemann–Pick Disease
Niemann Pick Disease Type C - Symptoms, Causes, Treatment
Niemann–Pick disease, type C - Wikipedia
IJMS, Free Full-Text
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States - ScienceDirect
A proposed model for the pathogenesis of Niemann-Pick disease type
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
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