Mutation in PHKA2 leading to childhood glycogen storage disease type IXa
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference18 articles.
1. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the GSD rat and in humans;Maichele;Nat Genet,1996
2. Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen;Hug;Science,1966
3. Glycogen storage disease type IX: high variability in clinical phenotype;Beauchamp;Mol Genet Metab,2007
4. cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis;Davidson;Proc Natl Acad Sci U S A,1992
5. Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa;Zhang;Gene,2017
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1. Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort;Biochemical Genetics;2024-04-15
2. A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa;Frontiers in Endocrinology;2023-12-20
3. Biomarkers in Glycogen Storage Diseases: An Update;International Journal of Molecular Sciences;2021-04-22
4. Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study;Frontiers in Pediatrics;2020-12-03
5. A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature;Clinica Chimica Acta;2020-09
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