Niemann–Pick type C disease: cellular pathology and

Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology

IJMS, Free Full-Text

IJMS, Free Full-Text

IJMS, Free Full-Text

Presentations of Niemann-Pick Type C disease

Therapeutic intervention for Niemann–Pick type C disease must target

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

Niemann–Pick Disease Type C: Induced Pluripotent Stem Cell–Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy - Daozhan Yu, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan

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Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target

Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1 - ScienceDirect

Niemann Pick Disease

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet

Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016 - Journal of Neurochemistry - Wiley Online Library