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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Hasan Onal, Safa Bariş, Mine Ozdil, Gözde Yeşil, Gürkan Altun, Isa Ozyilmaz, Ahmet Aydin, Tiraje Celkan
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Hacettepe University Institute of Child Health 2009-06-01
Цуврал:	The Turkish Journal of Pediatrics
Онлайн хандалт:	https://turkjpediatr.org/article/view/2306
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!