Article
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Yilmaz Agladioglu S, Aycan Z, Bas V N, Peltek Kendirci H N, Onder A
Abstract excerpt
The thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A2 that encodes a thiamine transporter protein. The disease can manifest at any time between infancy and adolescence, and not all cardinal findings are present initially. The anemia typically improves...
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