Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.
Xia Y et al.
Jama Network Open, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
Shao YX et al.
Orphanet Journal of Rare Diseases, 2024
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Wang Z et al.
The Journal of International Medical Research, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.
Du C et al.
Bmc Medical Genomics, 2021
A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.
Xu Q et al.
Molecular Genetics & Genomic Medicine, 2021
A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.
Wang F et al.
Frontiers in Pediatrics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
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
Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib.
Zhang Y et al.
The Journal of International Medical Research, 2019
Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY et al.
Journal of Inherited Metabolic Disease, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
[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
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
Qiu ZQ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.
Chen SY et al.
Molecular Genetics and Metabolism, 2008
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
Melis D et al.
European Journal of Pediatrics, 2005
Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.
Almqvist J et al.
Biochemistry, 2004
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
Chen LY et al.
Human Molecular Genetics, 2002
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.
Yuen YP et al.
Molecular Genetics and Metabolism, 2002
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D et al.
European Journal of Pediatrics, 2002
Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography.
Lam CW et al.
Prenatal Diagnosis, 2000
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.
Lam CW et al.
Human Mutation, 2000