Associated Papers
Structural basis of G6P/Pi transport and inhibition in SLC37A4.
Zhou D et al.
Nature Structural & Molecular Biology, 2026
Structural basis of glucose-6-phosphate transport by human SLC37A2.
Lai Q et al.
Nature Structural & Molecular Biology, 2026
Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.
Kasmi Z et al.
Bmc Medical Genomics, 2025
Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.
Xia Y et al.
Jama Network Open, 2025
Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.
Kasmi Z et al.
Bmc Medical Genomics, 2025
Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.
Ouyang X et al.
Frontiers in Genetics, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 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
Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients.
Hexner-Erlichman Z et al.
Frontiers in Pediatrics, 2022
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
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
Ouyang X et al.
Frontiers in Genetics, 2021
Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib.
Zhang Y et al.
The Journal of International Medical Research, 2019
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step.
Ahn HH et al.
Febs Letters, 2015
The SLC37 family of sugar-phosphate/phosphate exchangers.
Chou JY et al.
Current Topics in Membranes, 2014
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.
Carlin MP et al.
Genetics and Molecular Biology, 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
[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
The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.
Pan CJ et al.
Human Genetics, 2003
3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.
Law LK et al.
Journal of Inherited Metabolic Disease, 2003
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
Chen LY et al.
Human Molecular Genetics, 2002
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D et al.
European Journal of Pediatrics, 2002
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.
Chen LY et al.
The Journal of Biological Chemistry, 2000
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
Transmembrane topology of human glucose 6-phosphate transporter.
Pan CJ et al.
The Journal of Biological Chemistry, 1999
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.
Hiraiwa H et al.
The Journal of Biological Chemistry, 1999
[Identification of a novel missense mutation in Wilson disease gene].
Yang R et al.
Zhonghua Yi Xue Za Zhi, 1997