Associated Papers
Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.
Sun C et al.
Orphanet Journal of Rare Diseases, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
Al-Hussaini A et al.
Plos One, 2025
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
Shao Y et al.
Bmc Pediatrics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.
Beyzaei Z et al.
Scientific Reports, 2021
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
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
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Burwinkel B et al.
Human Molecular Genetics, 1998
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details