Associated Papers
Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.
Mianesaz H et al.
Journal of Diabetes Investigation, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
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
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.
Kang P et al.
Frontiers in Pediatrics, 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
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM et al.
Diabetologia, 2018
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
Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation.
Karimzadeh P et al.
Iranian Journal of Child Neurology, 2018
Arrhythmia in thiamine responsive megaloblastic anemia syndrome.
Argun M et al.
The Turkish Journal of Pediatrics, 2018
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
Akbari MT et al.
European Journal of Pediatrics, 2014
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
Setoodeh A et al.
Gene, 2013
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Shaw-Smith C et al.
Pediatric Diabetes, 2012
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
Unusual case of thiamine responsive megaloblastic anemia.
Tinsa F et al.
La Tunisie Medicale, 2009
TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature.
Ozdemir MA et al.
Pediatric Diabetes, 2002
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