title: Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.
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.
authors.affiliation: Department of Clinical and Experimental Medicine-Pediatrics, University of Ferrara, Ferrara, Italy. bre@unife.it
authors.forename: Caterina
authors.initials: C
authors.lastname: Borgna-Pignatti
authors.forename: Milena
authors.initials: M
authors.lastname: Azzalli
authors.forename: Stefania
authors.initials: S
authors.lastname: Pedretti
mesh_terms: D000749:Anemia, Megaloblastic / Q000188:drug therapy* / Q000235:genetics; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D013831:Thiamine / Q000627:therapeutic use*; D014803:Vitamin B Complex / Q000627:therapeutic use*; D055815:Young Adult
chemical_list: D014803:Vitamin B Complex; D013831:Thiamine