Associated Papers
Early-onset diabetes in Africa: A mini-review of the current genetic profile.
Adadey SM et al.
European Journal of Medical Genetics, 2023
Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Mohsen-Pour N et al.
Laboratory Medicine, 2022
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.
Laimon W et al.
Acta Diabetologica, 2021
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.
Amr K et al.
Molecular Genetics & Genomic Medicine, 2019
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM et al.
Diabetologia, 2018
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