Associated Papers
SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.
Risso B et al.
International Journal of Molecular Sciences, 2025
A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.
Chenzhuo S et al.
Bmc Pediatrics, 2025
A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2.
Li D et al.
The Journal of Biological Chemistry, 2021
SLC35A2-CDG: Novel variant and review.
Quelhas D et al.
Molecular Genetics and Metabolism Reports, 2021
Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.
Abuduxikuer K et al.
Frontiers in Genetics, 2021
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Witters P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genetic influence of ABCG2, UGT1A1 and NR1I2 on dolutegravir plasma pharmacokinetics.
Elliot ER et al.
The Journal of Antimicrobial Chemotherapy, 2020
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG et al.
Human Mutation, 2019
Polymorphisms of estrogen metabolism-related genes ESR1, UGT2B17, and UGT1A1 are not associated with osteoporosis in surgically menopausal Japanese women.
Yokota M et al.
Przeglad Menopauzalny = Menopause Review, 2015
Restriction fragment length polymorphism effectively identifies exon 1 mutation of UGT1A1 gene in patients with Gilbert's Syndrome.
Shiu TY et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2015
Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.
Gupta N et al.
Plos One, 2015
Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han.
Zhang X et al.
Genetics and Molecular Biology, 2012
Ethnic differences in the metabolism, toxicology and efficacy of three anticancer drugs.
Sai K et al.
Expert Opinion on Drug Metabolism & Toxicology, 2011
UGT1A1*6 polymorphism is most predictive of severe neutropenia induced by irinotecan in Japanese cancer patients.
Onoue M et al.
International Journal of Clinical Oncology, 2009
Genetic factors related to unconjugated hyperbilirubinemia amongst adults.
Huang CS et al.
Pharmacogenetics and Genomics, 2005
Comprehensive UGT1A1 genotyping in a Japanese population by pyrosequencing.
Saeki M et al.
Clinical Chemistry, 2003