Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
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DOI: 10.5546/aap.2017.eng.e153
Abstract: 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… read more here.
Keywords: anemia syndrome; anemia; responsive megaloblastic; megaloblastic anemia ... See more keywords