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…

Anesthetic consideration of Niemann-Pick Disease type C

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

Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Niemann–Pick disease, type C - Wikipedia

From genes to hope

MedRewind - #132 Niemann-Pick disease (Types A and B) : caused by the inability to degrade sphingomyelin due to a deficiency of sphingomyelinase, a type of phospholipase C. In the severe infantile

A proposed model for the pathogenesis of Niemann-Pick disease type

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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study - The Lancet Neurology

PDF) NIEMANN PICK DISEASE – A CASE REPORT

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Imaging Manifestations of Niemann-Pick Disease Type B