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…

Recommendations on the diagnosis and management of Niemann-Pick disease type C - ScienceDirect

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

Niemann-Pick disease type C

Histologic analysis of Niemann-Pick B-affected organs following

Niemann Pick Disease - Rivin

Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases

Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice

Figure 1 from Niemann-Pick disease type B. Study of 3 cases and literature revision

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

Niemann-Pick Disease, Type a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

Niemann-Pick disease type C

The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

Niemann-Pick disease type C