Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.
Kumar TV et al.
Plos One, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
Albash B et al.
European Journal of Pediatrics, 2014
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
Burwinkel B et al.
Pediatric Research, 2003
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Maichele AJ et al.
Nature Genetics, 1996
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