Impact of NBS for early identification and management of MPS I in siblings with W402X/L238Q genotype

Molecular Genetics and Metabolism 2026

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Authors: Elizabeth Jalazo, Kristin Clinard, Sarah Bennick, Leigh Anne H. Weisenfeld, Lindsay Torrice, Joseph Muenzer

DOI: 10.1016/j.ymgme.2025.109482

Cited by: 0

Fields of Study & Subjects

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