| A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. | |
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MedLine Citation:
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PMID: 18614593 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Ediz Yeşilkaya; Aysun Bideci; Meltem Temizkan; Zühre Kaya; Orhun Camurdan; Altuğ Koç; Davut Bozkaya; Ulker Koçak; Peyami Cinaz |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-07-09 |
Journal Detail:
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Title: Journal of tropical pediatrics Volume: 55 ISSN: 1465-3664 ISO Abbreviation: J. Trop. Pediatr. Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-07-30 Completed Date: 2009-11-04 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8010948 Medline TA: J Trop Pediatr Country: England |
Other Details:
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Languages: eng Pagination: 265-7 Citation Subset: IM |
Affiliation:
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Department of Pediatric Endocrinology, Gazi University Medical School, Ankara, Turkey. eyesilkaya@yahoo.co.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anemia, Megaloblastic
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diagnosis,
genetics*,
therapy Child, Preschool Diabetes Mellitus / diagnosis, genetics* Diagnosis, Differential Female Genotype Hearing Loss, Sensorineural / diagnosis, genetics* Humans Membrane Transport Proteins / genetics* Pedigree Point Mutation* Syndrome Thiamine / therapeutic use Treatment Outcome Turkey Vitamin B Complex / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Membrane Transport Proteins; 0/SLC19A2 protein, human; 12001-76-2/Vitamin B Complex; 59-43-8/Thiamine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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