Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB et al.
The Journal of Pediatrics, 2023
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
[The clinical and pathological characteristics of a patient with glycogen storage disease IV].
Yao S et al.
Zhonghua Nei Ke Za Zhi, 2009
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