Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation
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DOI: 10.1515/jpem-2016-0322
Abstract: Abstract Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months’ old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She… read more here.
Keywords: anemia trma; responsive megaloblastic; megaloblastic anemia; thiamine responsive ... See more keywords