Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
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Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Clinical characteristics of 50 hepatocellular adenoma patients among 164 cases of glycogen storage disease type Ia.
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Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
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Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia.
Zhu J et al.
Gene, 2012
[Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III].
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Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
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Human Mutation, 2008
Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.
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Journal of Inherited Metabolic Disease, 2003
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
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European Journal of Pediatrics, 2002
Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.
Wong LJ et al.
Molecular Genetics and Metabolism, 2001
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