Associated Papers
Structural insight into the glucose-6-phosphate transport by G6PT1 and inhibition mechanism of CGA.
Chen Q et al.
Science Advances, 2026
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
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 landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 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
[Hepatic glycogen storage diseases: Symptoms, management and associated mutations].
Grez C et al.
Andes Pediatrica : Revista Chilena De Pediatria, 2021
The natural history of glycogen storage disease type Ib in England: A multisite survey.
Halligan R et al.
Jimd Reports, 2021
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
Longterm Outcomes of Living Donor Liver Transplantation for Glycogen Storage Disease Type 1b.
Shimizu S et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2020
Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY et al.
Journal of Inherited Metabolic Disease, 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
[A Chinese patient with glycogen storage disease type Ib caused by mutations in the glucose-6-phosphate translocase gene].
Lin Q et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient.
Satoh D et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2013
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
G6PC mutations in two patients with glycogen storage disease type Ia in Thailand.
Kamolsilp M et al.
Acta Paediatrica (oslo, Norway : 1992), 2010
A case of glycogen storage disease type Ib presenting with prolonged neonatal hypoglycaemia and minimal metabolic abnormalities.
Matsumoto H et al.
Acta Paediatrica (oslo, Norway : 1992), 2010
Neutropenia in type Ib glycogen storage disease.
Chou JY et al.
Current Opinion in Hematology, 2010
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
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Kojima K et al.
Molecular Genetics and Metabolism, 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
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
Mutation analysis in glycogen storage disease type 1 non-a.
Janecke AR et al.
Human Genetics, 2000
Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.
Hou DC et al.
American Journal of Medical Genetics, 1999
Transmembrane topology of human glucose 6-phosphate transporter.
Pan CJ et al.
The Journal of Biological Chemistry, 1999
Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.
Ihara K et al.
Human Genetics, 1998
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
Kure S et al.
Biochemical and Biophysical Research Communications, 1998