Associated Papers
Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.
Magner M et al.
Molecular Genetics and Metabolism Reports, 2026
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 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
Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.
Ying S et al.
Frontiers in Pediatrics, 2020
Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.
Zhu Q et al.
Medicine, 2019
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
Choi R et al.
Bmc Medical Genetics, 2016
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.
Kim JA et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2015
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
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ et al.
Molecular Genetics and Metabolism, 0
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