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
Polyglucosan storage myopathies.
Hedberg-Oldfors C et al.
Molecular Aspects of Medicine, 2015
Neuromuscular disorders of glycogen metabolism.
Gazzerro E et al.
Current Neurology and Neuroscience Reports, 2013
Glycogen and its metabolism: some new developments and old themes.
Roach PJ et al.
The Biochemical Journal, 2012
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
Douillard-Guilloux G et al.
Human Molecular Genetics, 2010
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
Kollberg G et al.
The New England Journal of Medicine, 2007
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