Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II

PDF) Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: Long-term follow-up

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

Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report

IJMS, Free Full-Text

From new screens to discovered genes: The successful past and promising present of single gene disorders - Roe - 2007 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library

Increase in plasma Niemann–Pick disease type C2 protein is associated with poor prognosis of sepsis

Niemann-Pick Disease - Types, Causes, Symptoms, Diagnosis & Treatment

PDF) Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)