Associated Papers
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.
Klötzer C et al.
Acta Haematologica, 2025
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
Enogieru OJ et al.
The Aaps Journal, 2021
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.
Kang P et al.
Frontiers in Pediatrics, 2021
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.
Yu MG et al.
The Journal of Clinical Investigation, 2019
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
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
Pomahačová R et al.
Pediatric Diabetes, 2017
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.
Pichler H et al.
European Journal of Pediatrics, 2012
Screening newborns: current state and future challenges. Abstracts of the International Congress on Prevention of Congenital Diseases. Vienna, Austria. May 13-14, 2011.
Unknown Author
Journal of Inherited Metabolic Disease, 2011
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