Associated Papers
Structural basis of glucose-6-phosphate transport by human SLC37A2.
Lai Q et al.
Nature Structural & Molecular Biology, 2026
Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.
Xia Z et al.
Nature Communications, 2025
Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.
Akyüz A et al.
European Journal of Pediatrics, 2025
Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.
Demirtas Guner D et al.
Children (basel, Switzerland), 2025
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin.
Kaczor M et al.
Blood Advances, 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
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors.
Murko S et al.
Molecular Genetics and Metabolism Reports, 2023
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R et al.
Scientific Reports, 2022
The natural history of glycogen storage disease type Ib in England: A multisite survey.
Halligan R et al.
Jimd Reports, 2021
Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY et al.
Journal of Inherited Metabolic Disease, 2018
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
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
Choi R et al.
Annals of Laboratory Medicine, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
The SLC37 family of sugar-phosphate/phosphate exchangers.
Chou JY et al.
Current Topics in Membranes, 2014
Glucose-6-phosphatase deficiency.
Froissart R et al.
Orphanet Journal of Rare Diseases, 2011
Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect.
Zappu A et al.
Genetic Testing and Molecular Biomarkers, 2010
Neutropenia in type Ib glycogen storage disease.
Chou JY et al.
Current Opinion in Hematology, 2010
Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib.
Pan CJ et al.
Molecular Genetics and Metabolism, 2009
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 human sugar-phosphate/phosphate exchanger family SLC37.
Bartoloni L et al.
Pflugers Archiv : European Journal of Physiology, 2004
Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.
Trioche P et al.
Journal of Inherited Metabolic Disease, 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
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
Santer R et al.
Human Mutation, 2000
Glycogen storage disease type Ib without neutropenia.
Kure S et al.
The Journal of Pediatrics, 2000
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
Veiga-da-Cunha M et al.
European Journal of Human Genetics : Ejhg, 1999
Transmembrane topology of human glucose 6-phosphate transporter.
Pan CJ et al.
The Journal of Biological Chemistry, 1999
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
Veiga-da-Cunha M et al.
American Journal of Human Genetics, 1998