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…

The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

Niemann-Pick Diseases - NPUK

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

10: Types A and B Niemann–Pick Disease

Children, Free Full-Text

Confocal LASER endomicroscopy in Niemann–Pick disease type B

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

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 C1 (NPC1) is associated with early-onset