Tags

Type your tag names separated by a space and hit enter

A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
J Trop Pediatr. 2009 Aug; 55(4):265-7.JT

Abstract

Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature, we highlight the recognition of this syndrome--when megaloblastic anemia and diabetes mellitus coexists--and the role of thiamine replacement for the treatment of both disorders.

Authors+Show Affiliations

Department of Pediatric Endocrinology, Gazi University Medical School, Ankara, Turkey. eyesilkaya@yahoo.co.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18614593

Citation

Yeşilkaya, Ediz, et al. "A Novel Mutation in the SLC19A2 Gene in a Turkish Female With Thiamine-responsive Megaloblastic Anemia Syndrome." Journal of Tropical Pediatrics, vol. 55, no. 4, 2009, pp. 265-7.
Yeşilkaya E, Bideci A, Temizkan M, et al. A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. J Trop Pediatr. 2009;55(4):265-7.
Yeşilkaya, E., Bideci, A., Temizkan, M., Kaya, Z., Camurdan, O., Koç, A., Bozkaya, D., Koçak, U., & Cinaz, P. (2009). A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. Journal of Tropical Pediatrics, 55(4), 265-7. https://doi.org/10.1093/tropej/fmn060
Yeşilkaya E, et al. A Novel Mutation in the SLC19A2 Gene in a Turkish Female With Thiamine-responsive Megaloblastic Anemia Syndrome. J Trop Pediatr. 2009;55(4):265-7. PubMed PMID: 18614593.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. AU - Yeşilkaya,Ediz, AU - Bideci,Aysun, AU - Temizkan,Meltem, AU - Kaya,Zühre, AU - Camurdan,Orhun, AU - Koç,Altuğ, AU - Bozkaya,Davut, AU - Koçak,Ulker, AU - Cinaz,Peyami, Y1 - 2008/07/09/ PY - 2008/7/11/pubmed PY - 2009/11/5/medline PY - 2008/7/11/entrez SP - 265 EP - 7 JF - Journal of tropical pediatrics JO - J Trop Pediatr VL - 55 IS - 4 N2 - Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature, we highlight the recognition of this syndrome--when megaloblastic anemia and diabetes mellitus coexists--and the role of thiamine replacement for the treatment of both disorders. SN - 1465-3664 UR - https://www.unboundmedicine.com/medline/citation/18614593/A_novel_mutation_in_the_SLC19A2_gene_in_a_Turkish_female_with_thiamine_responsive_megaloblastic_anemia_syndrome_ DB - PRIME DP - Unbound Medicine ER -