Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Benner A et al.
American Journal of Medical Genetics. Part A, 2021
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
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
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C et al.
Biochimica Et Biophysica Acta, 2008
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ et al.
Molecular Genetics and Metabolism, 0
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