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
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C et al.
Biochimica Et Biophysica Acta, 2008
Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.
Rudolfová J et al.
Journal of Inherited Metabolic Disease, 2001
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency.
Herzog B et al.
Journal of Inherited Metabolic Disease, 2001
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