Associated Papers
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.
Ying S et al.
Frontiers in Pediatrics, 2020
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
Skakic A et al.
Clinical Genetics, 2018
Recent development and gene therapy for glycogen storage disease type Ia.
Chou JY et al.
Liver Research (beijing, China), 2017
Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.
Lu Y et al.
Molecular Medicine Reports, 2016
[Molecular diagnosis and prenatal diagnosis in a hereditary multiple osteochondromas family].
Tang Y et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2013
[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
Liang CL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2013
[Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa].
Wang Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2012
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.
Li DZ et al.
Prenatal Diagnosis, 2007
[Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis].
Qiu WJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
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