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Article

A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.

Journal of tropical pediatrics - 1 Aug 2009

Yeşilkaya Ediz, Bideci Aysun, Temizkan Meltem, Kaya Zühre, Camurdan Orhun, Koç Altuğ, Bozkaya Davut, Koçak Ulker, Cinaz Peyami

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18614593
DOI: 10.1093/tropej/fmn060

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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