Clinical impact of the MAN2B1 c.2248C > T variant in patients with alpha-mannosidosis: Genotype-phenotype insights from the SPARKLE registry

Molecular Genetics and Metabolism 2026

View at publisher
Authors: Nathalie Guffon, Nicole Muschol, Karolina M. Stępień, Line Gutte Borgwardt, Allan Lund, Heather Morgan, Chiara Donati, Vito Fichera, Daniela Garavaglia, Julia B. Hennermann
DOI: 10.1016/j.ymgme.2025.109449
Cited by: 0

Fields of Study & Subjects

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

Publication details

Journal / source
Molecular Genetics and Metabolism
Volume
147
Issue
2
Pages
109449–109449
Publication date
1 February 2026
Language
EN