Clinical manifestations and molecular genetics of seven patients with Niemann-Pick disease type C: A case series with a novel variant

Molecular Genetics and Metabolism 2026

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Authors: Engi̇n Köse, Tuba Fatma Eminoglu

DOI: 10.1016/j.ymgme.2025.109506

Cited by: 0

Fields of Study & Subjects

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