Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness

Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. Mutations in the SLC19A2 gene, encoding a high-affinity thiamine transporter protein, THTR-1, are responsible for the c...

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Principais autores:	Hasan Onal, Safa Bariş, Mine Ozdil, Gözde Yeşil, Gürkan Altun, Isa Ozyilmaz, Ahmet Aydin, Tiraje Celkan
Format:	Artigo
Jezik:	Inglês
Izdano:	Hacettepe University Institute of Child Health 2009-06-01
Serija:	The Turkish Journal of Pediatrics
Online dostop:	https://turkjpediatr.org/article/view/2306
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