Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Autor: Kısa PT; Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.; Dr. Behçet Uz Children's Research and Training Hospital, Department of Pediatric Metabolism and Nutrition, Izmir University of Health Sciences, Izmir, Turkey., Yildirim GK; Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey., Hismi BO; Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Marmara University Faculty of Medicine, Istanbul, Turkey., Dorum S; Bursa Yuksek Ihtisas Training and Research Hospital, Pediatric Metabolic Diseases Clinic, Bursa University of Health Sciences, Bursa, Turkey., Kusbeci OY; Department of Neurology, Izmir Bozyaka Training and Research Hospital, Izmir, Turkey., Topak A; Bursa Yuksek Ihtisas Training and Research Hospital, Medical Genetics Clinic, Bursa University of Health Sciences, Bursa, Turkey., Baydan F; Tepecik Training and Research Hospital, Department of Child Health and Diseases, Division of Pediatric Neurology, Izmir University of Health Sciences, Izmir, Turkey., Celik FND; Department of Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey., Gorukmez O; Bursa Yuksek Ihtisas Training and Research Hospital, Medical Genetics Clinic, Bursa University of Health Sciences, Bursa, Turkey., Gulten ZA; Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Ekici A; Bursa Yuksek Ihtisas Training and Research Hospital, Pediatric Neurology Clinic, Bursa University of Health Sciences, Bursa, Turkey., Ozkan S; Department of Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey., Yaman A; Faculty of Medicine, Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey., Arslan N; Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey. nur.arslan@deu.edu.tr.; Izmir Biomedicine and Genome Center (İBG-izmir), 35340, Balcova, Izmir, Turkey. nur.arslan@deu.edu.tr.

Publikováno v: Metabolic brain disease [Metab Brain Dis] 2021 Aug; Vol. 36 (6), pp. 1201-1211. Date of Electronic Publication: 2021 Mar 11.