Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report
Tarih
2017Yazar
Katipoglu, Nagehan
Karapinar, Tuba H.
Demir, Korcan
Koker, Sultan Aydin
Nalbantoglu, Ozlem
Ay, Yilmaz
Korkmaz, Huseyin A.
Ozkan, Behzat
Vergin, Canan
Hazan, Filiz
Tunc, Selma
Yildiz, Melek
Oymak, Yesim
Üst veri
Tüm öğe kaydını gösterÖzet
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.
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