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
35834487 (PubMed )
Supplement: pone.0270373.s001.docx
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Roscher A et al.
Molecular Genetics and Metabolism, 2014
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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