Associated Papers
Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Kor D 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
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.
Li ZD et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
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
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.
Zhu Q et al.
Medicine, 2019
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
Bali DS et al.
Jimd Reports, 2017
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
Choi R et al.
Bmc Medical Genetics, 2016
Aggressive therapy improves cirrhosis in glycogen storage disease type IX.
Tsilianidis LA et al.
Molecular Genetics and Metabolism, 2013
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
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.
Ban K et al.
The Tohoku Journal of Experimental Medicine, 2003