Thiamine-responsive megaloblastic anemia syndrome: long term follow-up - PubMed (original) (raw)
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Thiamine-responsive megaloblastic anemia syndrome: long term follow-up
Caterina Borgna-Pignatti et al. J Pediatr. 2009 Aug.
Abstract
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.
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