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Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

dc.contributor.authorGezdirici, Alper
dc.contributor.authorAKTUĞLU ZEYBEK, Ayşe Çiğdem
dc.contributor.authorCANSEVER, Mehmet Şerif
dc.contributor.authorYesil, Gozde
dc.contributor.authorEnver, Ece Oge
dc.contributor.authorZÜBARİOĞLU, Tanyel
dc.contributor.authorYALÇINKAYA, Cengiz
dc.contributor.authorOruc, Cigdem
dc.contributor.authorKIYKIM, Ertuğrul
dc.date.accessioned2021-03-02T17:07:47Z
dc.date.available2021-03-02T17:07:47Z
dc.date.issued2020
dc.identifier.citationZÜBARİOĞLU T., YALÇINKAYA C., Oruc C., KIYKIM E., CANSEVER M. Ş. , Gezdirici A., Yesil G., Enver E. O. , AKTUĞLU ZEYBEK A. Ç. , "Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria", TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.55, sa.3, ss.290-298, 2020
dc.identifier.othervv_1032021
dc.identifier.otherav_3d526e2c-8821-410a-8745-0f699057745a
dc.identifier.urihttp://hdl.handle.net/20.500.12627/3610
dc.identifier.urihttps://doi.org/10.14744/turkpediatriars.2019.06926
dc.description.abstractAim: L-2-hydroxyglutaric aciduria is a slowly progressive neurometabolic disorder caused by an enzymatic deficiency of L-2-hydroxyglutarate dehydrogenase. Here, we aimed to evaluate the clinical, neuroradiologic, and genotypic characteristics of patients with L-2-hydroxyglutaric aciduria who were followed in our outpatient clinic.
dc.language.isoeng
dc.subjectTıp
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectPEDİATRİ
dc.titleEvaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria
dc.typeMakale
dc.relation.journalTURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
dc.contributor.departmentİstanbul Üniversitesi-Cerrahpaşa , Cerrahpaşa Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume55
dc.identifier.issue3
dc.identifier.startpage290
dc.identifier.endpage298
dc.contributor.firstauthorID2286192


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