Browsing by Author "Kiykim, Ertugrul"

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Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey

Kiykim, Ertugrul; Cansever, Mehmet Serif; Demircioglu, Duhan; Zubarioglu, Tanyel; YEŞİL, GÖZDE; Aktuglu-Zeybek, Cigdem; Yalcinkaya, Cengiz (2019-09-01)

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs beginning from childhood, CTX is generally diagnosed lately. The aim ...
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

Kiykim, Ayca; YEŞİL, GÖZDE; Ozen, Ahmet; Karakoc-Aydiner, Elif; Garncarz, Wojciech; BARIŞ, SAFA; Boztug, Kaan; Kiykim, Ertugrul (2016-04-01)