Associated Papers
Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.
Xia Z et al.
Nature Communications, 2025
Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Kor D et al.
Orphanet Journal of Rare Diseases, 2025
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
Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.
Du C et al.
Bmc Medical Genomics, 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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
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 Ib without neutropenia.
Kure S et al.
The Journal of Pediatrics, 2000