dc.contributor.author | Kara, Buelent | |
dc.contributor.author | Uyguner, Oya | |
dc.contributor.author | Kocbas, Ayca | |
dc.contributor.author | Rosti, Rasim Oezguer | |
dc.contributor.author | Uezuemcue, Abdullah | |
dc.contributor.author | Kayserili, Huelya | |
dc.contributor.author | Oezmen, Meral | |
dc.date.accessioned | 2021-03-03T07:44:21Z | |
dc.date.available | 2021-03-03T07:44:21Z | |
dc.date.issued | 2008 | |
dc.identifier.citation | Kara B., Uezuemcue A., Uyguner O., Rosti R. O. , Kocbas A., Oezmen M., Kayserili H., "Ataxia with vitamin E deficiency associated with deafness", TURKISH JOURNAL OF PEDIATRICS, cilt.50, sa.5, ss.471-475, 2008 | |
dc.identifier.issn | 0041-4301 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_13a591da-6414-469f-8ea5-b9fd36b1dae8 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/18639 | |
dc.description.abstract | Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption. Vitamin E supplementation improves symptoms and prevents disease progress. In North Africa and Southern Europe, AVED is as common as Friedreich ataxia. There are no reported cases from Turkey. We herein report a 16-year-old Turkish girl with AVED, who was found to have total deletion of the TTPA gene as well as sensorineural deafness, and we present her follow-up data after vitamin E therapy. | |
dc.language.iso | eng | |
dc.subject | Tıp | |
dc.subject | Çocuk Sağlığı ve Hastalıkları | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | PEDİATRİ | |
dc.title | Ataxia with vitamin E deficiency associated with deafness | |
dc.type | Makale | |
dc.relation.journal | TURKISH JOURNAL OF PEDIATRICS | |
dc.contributor.department | İstanbul Üniversitesi , , | |
dc.identifier.volume | 50 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 471 | |
dc.identifier.endpage | 475 | |
dc.contributor.firstauthorID | 31649 | |