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 disease - Breda Genetics srl Breda Genetics srl

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

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management, BMC Medical Genetics

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

Morbidity and mortality in type B Niemann–Pick disease

Niemann–Pick disease type C1 (NPC1) is associated with early-onset

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

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

NNPDF on X: October is Global Niemann-Pick Disease Awareness Month! For more information on Niemann-Pick Disease or to make a donation to NNPDF go to #niemannpick #ASMD #NPC #raredisease #NNPDF /