Associated Papers
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
Koch RL et al.
Npj Genomic Medicine, 2025
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.
Picillo E et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2024
Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges.
Wang CC et al.
Cns Neuroscience & Therapeutics, 2022
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