ARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.115, sa.3, 2017 (SCI-Expanded)
Background. Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.