Niemann-Pick B - RS - 5th infusion.

PDF) Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency)

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis, Orphanet Journal of Rare Diseases

Familial Hypercholesterolemia: From Clinical Suspicion to Novel Treatments

JCM, Free Full-Text

Frontiers Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

Frontiers Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases

PDF) Defects in sarcolemma repair and skeletal muscle function after injury in a mouse model of Niemann-Pick type A/B disease

Niemann-Pick disease type C

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers - ScienceDirect

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals - Genetics in Medicine