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Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.
J Pediatr. 2009 Aug; 155(2):295-7.JPed

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+Show Affiliations

Department of Clinical and Experimental Medicine-Pediatrics, University of Ferrara, Ferrara, Italy. bre@unife.itNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19619756

Citation

Borgna-Pignatti, Caterina, et al. "Thiamine-responsive Megaloblastic Anemia Syndrome: Long Term Follow-up." The Journal of Pediatrics, vol. 155, no. 2, 2009, pp. 295-7.
Borgna-Pignatti C, Azzalli M, Pedretti S. Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. J Pediatr. 2009;155(2):295-7.
Borgna-Pignatti, C., Azzalli, M., & Pedretti, S. (2009). Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. The Journal of Pediatrics, 155(2), 295-7. https://doi.org/10.1016/j.jpeds.2009.01.062
Borgna-Pignatti C, Azzalli M, Pedretti S. Thiamine-responsive Megaloblastic Anemia Syndrome: Long Term Follow-up. J Pediatr. 2009;155(2):295-7. PubMed PMID: 19619756.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. AU - Borgna-Pignatti,Caterina, AU - Azzalli,Milena, AU - Pedretti,Stefania, PY - 2008/11/14/received PY - 2008/12/30/revised PY - 2009/01/21/accepted PY - 2009/7/22/entrez PY - 2009/7/22/pubmed PY - 2009/8/21/medline SP - 295 EP - 7 JF - The Journal of pediatrics JO - J Pediatr VL - 155 IS - 2 N2 - 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. SN - 1097-6833 UR - https://www.unboundmedicine.com/medline/citation/19619756/Thiamine_responsive_megaloblastic_anemia_syndrome:_long_term_follow_up_ DB - PRIME DP - Unbound Medicine ER -