Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
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
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C et al.
Biochimica Et Biophysica Acta, 2008
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Burwinkel B et al.
Human Genetics, 1998
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