Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference36 articles.
1. Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency;Achouitar;Mol. Genet. Metabol.,2011
2. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature;Albash;Eur. J. Pediatr.,2014
3. Clinical and molecular variability in patients with PHKA2 variants and liver phosphorylase b kinase deficiency;Bali;JIMD Rep,2017
4. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene;Bali;Mol. Genet. Metabol.,2014
5. Glycogen storage disease type IX: high variability in clinical phenotype;Beauchamp;Mol. Genet. Metabol.,2007
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1. Novel sequence of PHKG2 mutation associated with first case of glycogen storage disease type IXc in Syria: a case report;2024-06-04
2. Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases;Frontiers in Genetics;2022-08-29
3. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI;Orphanet Journal of Rare Diseases;2022-06-20
4. Hypoglycaemia Metabolic Gene Panel Testing;Frontiers in Endocrinology;2022-03-29
5. First report of suspected glycogen storage disease type 1a occurring in an adult dog;Journal of Small Animal Practice;2022-03-10
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