The NPC Suspicion Index: Re-establishing a valuable tool for earlier detection of Niemann-Pick disease type C

Molecular Genetics and Metabolism 2026

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Authors: Sandra Cowie, Toni Mathieson, Stefan Kolb, Joella Melville, Shaun Bolton

DOI: 10.1016/j.ymgme.2025.109375

Cited by: 0

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders