dc.contributor.author | Choksi, V | |
dc.contributor.author | Hoeffner, E | |
dc.contributor.author | Karaarslan, E | |
dc.contributor.author | Cakirer, S | |
dc.contributor.author | Yalcinkaya, Cengiz | |
dc.date.accessioned | 2021-03-04T14:05:44Z | |
dc.date.available | 2021-03-04T14:05:44Z | |
dc.date.issued | 2003 | |
dc.identifier.citation | Choksi V., Hoeffner E., Karaarslan E., Yalcinkaya C., Cakirer S., "Infantile Refsum disease: Case report", AMERICAN JOURNAL OF NEURORADIOLOGY, cilt.24, sa.10, ss.2082-2084, 2003 | |
dc.identifier.issn | 0195-6108 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_7fbd7fb6-c76b-4022-a0e7-635d29bef8f3 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/87161 | |
dc.description.abstract | Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because of further progression of the disease. The initial diagnosis in both patients was made on basis of history, clinical findings, and biochemical studies. | |
dc.language.iso | eng | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Nöroloji | |
dc.subject | Nükleer Tıp | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Temel Bilimler | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | RADYOLOJİ, NÜKLEER TIP ve MEDİKAL GÖRÜNTÜLEME | |
dc.subject | Sinirbilim ve Davranış | |
dc.subject | NÖRO-GÖRÜNTÜLEME | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | KLİNİK NEUROLOJİ | |
dc.title | Infantile Refsum disease: Case report | |
dc.type | Makale | |
dc.relation.journal | AMERICAN JOURNAL OF NEURORADIOLOGY | |
dc.contributor.department | , , | |
dc.identifier.volume | 24 | |
dc.identifier.issue | 10 | |
dc.identifier.startpage | 2082 | |
dc.identifier.endpage | 2084 | |
dc.contributor.firstauthorID | 23028 | |