Rare Diseases India on X: Niemann-Pick is a rare, inherited

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

New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease

Frontiers Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India

Niemann-Pick disease - UF Health

PDF) Genomics of rare genetic diseases—experiences from India

Novel Therapies for Orphan Diseases

Rare diseases presenting with hemophagocytic lymphohistiocytosis - Kanegane - 2023 - Pediatrics International - Wiley Online Library

Megan McCabe - EveryLife Foundation for Rare Diseases

List Niemann-Pick as rare disease, parents of young patients urge govt

Frontiers Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India

Basics of Rare Diseases - Types, Diagnosis and Treatment

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B), Orphanet Journal of Rare Diseases