Associated Papers
Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.
Candela E et al.
Genes, 2025
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
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
Liver histology in children with glycogen storage disorders type VI and IX.
Degrassi I et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 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 genetic characteristics of three Chinese patients with glycogen storage disease type Ⅸα.
Yang F et al.
Pediatrics and Neonatology, 2019
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
Zhang J et al.
Gene, 2017
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
Bali DS et al.
Jimd Reports, 2017
[Hepatic involvement in a female carrier heterozygous for a mutation in the PHKA2 gene].
Blanco Sánchez T et al.
Anales De Pediatria (barcelona, Spain : 2003), 2016
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
Choi R et al.
Bmc Medical Genetics, 2016
Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.
Hoogeveen IJ et al.
Jimd Reports, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Roscher A et al.
Molecular Genetics and Metabolism, 2014
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.
Cho SY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Achouitar S et al.
Molecular Genetics and Metabolism, 2011
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
[The clinical and pathological characteristics of a patient with glycogen storage disease IV].
Yao S et al.
Zhonghua Nei Ke Za Zhi, 2009
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C et al.
Biochimica Et Biophysica Acta, 2008
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.
Hendrickx J et al.
American Journal of Human Genetics, 1999
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.
Hirono H et al.
Journal of Inherited Metabolic Disease, 1998
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Burwinkel B et al.
Human Genetics, 1998
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.
Hendrickx J et al.
Human Molecular Genetics, 1996
Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.
Hirono H et al.
Biochemistry and Molecular Biology International, 1995
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 0