Associated Papers
Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia.
Gehlhaar A et al.
Human Immunology, 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
Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.
Chkioua L et al.
Diabetology & Metabolic Syndrome, 2023
Immune dysregulation in Glycogen Storage Disease 1b - a CyTOF approach.
Gehlhaar A et al.
Research Square, 2023
Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report.
Meimand SE et al.
Immunologic Research, 2023
Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.
Jeong D et al.
Scientific Reports, 2022
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
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
The SLC37 family of sugar-phosphate/phosphate exchangers.
Chou JY et al.
Current Topics in Membranes, 2014
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
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
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
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.
Hiraiwa H et al.
The Journal of Biological Chemistry, 1999