Associated Papers
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).
Donoghue S et al.
American Journal of Medical Genetics. Part A, 2025
Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B).
Llauradó A et al.
Molecular Genetics and Metabolism, 2025
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy.
Musumeci O et al.
Neuromuscular Disorders : Nmd, 2022
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