Associated Papers
Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Kor D et al.
Orphanet Journal of Rare Diseases, 2025
Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.
Xia Y et al.
Jama Network Open, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
Al-Hussaini A et al.
Plos One, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 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
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
The natural history of glycogen storage disease type Ib in England: A multisite survey.
Halligan R et al.
Jimd Reports, 2021
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.
Marquardt T et al.
Molecular Genetics and Metabolism Reports, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
Unexpected Findings in a Patient With Hepatomegaly and Skin Rashes.
Bai J et al.
Gastroenterology, 2018
The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.
Cappello AR et al.
Frontiers in Chemistry, 2018
The SLC37 family of sugar-phosphate/phosphate exchangers.
Chou JY et al.
Current Topics in Membranes, 2014
[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
Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation.
Chopra M et al.
Molecular Genetics and Metabolism, 2009
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
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
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
Chen LY et al.
Human Molecular Genetics, 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
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