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Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.

By C.Borgna, M.Azzalli and S.Pedretti


Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease

Topics: ERG, Electroretinography, Hb, Hemoglobin, IVGTT, Intravenous glucose tolerance test, MCV, Mean corpuscular volume, TRMA, Thiamine-responsive megaloblastic anemia, VEPs, Visual evoked potentials
Year: 2009
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