Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.
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
ERG, Electroretinography, Hb, Hemoglobin, IVGTT, Intravenous glucose tolerance test, MCV, Mean corpuscular volume, TRMA, Thiamine-responsive megaloblastic anemia, VEPs, Visual evoked potentials
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