| http://purl.uniprot.org/citations/31951336 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31951336 | http://www.w3.org/2000/01/rdf-schema#comment | "Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260. Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus. Here we report, a 5-year-old boy who presented with transfusion dependent anemia and diabetes mellitus and was diagnosed with TRMA. Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.org/dc/terms/identifier | "doi:10.24953/turkjped.2019.02.015"xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Gezdirici A."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Onal H."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Aydogan G."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Ersoy G."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Yıldız M."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Kucukemre-Aydın B."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Odaman-Al I."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Salcıoglu Z."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/author | "Tahtakesen T.N."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/name | "Turk J Pediatr"xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/pages | "257-260"xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/title | "A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome."xsd:string |
| http://purl.uniprot.org/citations/31951336 | http://purl.uniprot.org/core/volume | "61"xsd:string |
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