Article
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
Archivos argentinos de pediatria - 1 Jun 2017
Katipoğlu Nagehan, Karapinar Tuba H, Demir Korean, Aydin Köker Sultan, Nalbantoğlu Özlem, Ay Yılmaz, Korkmaz Hüseyin A, Oymak Yeşim, Yıldız Melek, Tunç Selma, Hazan Filiz, Vergin Canan, Ozkan Behzat
Abstract excerpt
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. CASE PRESENTATION: We report a girl which presented with sensorineural deafness treated...
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