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J Pediatr. 2009 Aug;155(2):295-7. doi: 10.1016/j.jpeds.2009.01.062.

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

Author information

1
Department of Clinical and Experimental Medicine-Pediatrics, University of Ferrara, Ferrara, Italy. bre@unife.it

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.

PMID:
19619756
DOI:
10.1016/j.jpeds.2009.01.062
[Indexed for MEDLINE]

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