Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of ea...

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Veröffentlicht in:	Metabolic brain disease 2021-08, Vol.36 (6), p.1201-1211
Hauptverfasser:	Kısa, Pelin Teke, Yildirim, Gonca Kilic, Hismi, Burcu Ozturk, Dorum, Sevil, Kusbeci, Ozge Yilmaz, Topak, Ali, Baydan, Figen, Celik, Fatma Nazlı Durmaz, Gorukmez, Orhan, Gulten, Zumrut Arslan, Ekici, Arzu, Ozkan, Serhat, Yaman, Aylin, Arslan, Nur
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Basal ganglia Biochemistry Biomedical and Life Sciences Biomedicine Body mass Body mass index Body size Body weight Brain diseases Central nervous system diseases Chenodeoxycholic acid Chenodeoxycholic Acid - pharmacology Child Children Cholestanol - blood Cholestasis Cross-Sectional Studies Defecation Diagnosis Diarrhea Early Diagnosis Female Health services Humans Hydroxylase Lipids Male Metabolic Diseases Middle Aged Movement disorders Neonates Neurology Neurosciences Oncology Original Article Patients Pediatrics Signs and symptoms Storage diseases Xanthomatosis Xanthomatosis, Cerebrotendinous - complications Xanthomatosis, Cerebrotendinous - diagnosis Xanthomatosis, Cerebrotendinous - physiopathology
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