Associated Papers
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 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
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
Sun C et al.
Journal of Diabetes, 2018
Arrhythmia in thiamine responsive megaloblastic anemia syndrome.
Argun M et al.
The Turkish Journal of Pediatrics, 2018
Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?
Akın L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2011
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
Yeşilkaya E et al.
Journal of Tropical Pediatrics, 2009
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