Associated Papers
Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Kor D et al.
Orphanet Journal of Rare Diseases, 2025
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
The role of IL22 polymorphisms on liver cirrhosis in patients with hepatitis B virus: A case control study.
Gao YH et al.
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
A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.
Fu J et al.
Bmc Medical Genetics, 2019
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
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.
Brown LM et al.
Journal of Inherited Metabolic Disease, 2015
Aggressive therapy improves cirrhosis in glycogen storage disease type IX.
Tsilianidis LA et al.
Molecular Genetics and Metabolism, 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
[The clinical and pathological characteristics of a patient with glycogen storage disease IV].
Yao S et al.
Zhonghua Nei Ke Za Zhi, 2009
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
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