Associated Papers
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
Wu S et al.
American Journal of Medical Genetics. Part A, 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
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM et al.
Diabetologia, 2018
Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation.
Karimzadeh P et al.
Iranian Journal of Child Neurology, 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
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