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
Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?
Ali Khan I
Heliyon, 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
29450569 (PubMed )
Supplement: 125_2018_4554_MOESM1_ESM.pdf
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
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE et al.
Cell Metabolism, 2014
24411943 (PubMed )
Supplement: mmc1.pdf
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Shaw-Smith C et al.
Pediatric Diabetes, 2012
Unusual case of thiamine responsive megaloblastic anemia.
Tinsa F et al.
La Tunisie Medicale, 2009
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