Associated Papers
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
Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest.
Dua V et al.
Pediatric Blood & Cancer, 2013
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