Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
Shao Y et al.
Bmc Pediatrics, 2022
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.
Brown LM et al.
Journal of Inherited Metabolic Disease, 2015
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
Albash B et al.
European Journal of Pediatrics, 2014
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Bali DS et al.
Molecular Genetics and Metabolism, 2014
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
Burwinkel B et al.
Pediatric Research, 2003
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ et al.
Molecular Genetics and Metabolism, 0
Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population.
Jiao J et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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