Niemann-Pick disease type C as a neurovisceral disease. Schematic
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Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts
Niemann-Pick Disease Type C
Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease
The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine
Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
IJMS, Free Full-Text
Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology
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
PPT - Diagnosing Niemann Pick disease, Type C PowerPoint Presentation, free download - ID:2929422
Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment, BJPsych Bulletin
Full article: Current advancements in therapy for Niemann-Pick disease: progress and pitfalls
Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery
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