Niemann-Pick Type a Disease with a Novel SMPD1 Variant - A Case Report

Clinical & Translational Metabolism 2026

View at publisher

Authors: Aliye Gülbahçe, Ömer Karaca, Evrim Hepkaya, Merve Öztürk, Ali Korulmaz, Hüseyin Onay

DOI: 10.1007/s12018-026-09323-3

Cited by: 0

References: 10

Fields of Study & Subjects

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

References 10