Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2.
Morales JA et al.
Molecular Genetics and Metabolism Reports, 2021
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
Choi R et al.
Bmc Medical Genetics, 2016
A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I.
Park KJ et al.
Annals of Clinical and Laboratory Science, 2011
Select a paper to view details