Results 101 to 110 of about 2,521 (182)

Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study. [PDF]

Cerebellum
Camelo-Filho AE, Sá Barreto Lima PLG, da Rosa RF, Miyajima OR, Marcucci MHB, de Oliveira Scott SS, de Arruda Furtado LET, Frota AF, Soares MVR, Macedo DS, Pessoa A, Nóbrega PR, Braga-Neto P.   +12 more
europepmc   +1 more source

Utilization of screening for cerebrotendinous xanthomatosis in adult patients with idiopathic ataxia. [PDF]

Front Neurol
Sipma R, Dean M, DeBarber A, Yacoubian T.   +3 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report. [PDF]

World J Psychiatry, 2023
Ling CX, Gao SZ, Li RD, Gao SQ, Zhou Y, Xu XJ.   +5 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A report of 3 cases

JAAD Case Reports, 2020
Katharine Saussy, MD, Neelesh Jain, BS, Andrea Murina, MD   +2 more
doaj   +1 more source

Targeted CYP27A1 gene analysis for early identification of cerebrotendinous xanthomatosis in juvenile cataract patients: report of a novel variant. [PDF]

BMC Ophthalmol
Ceylan A, Güler S, Aydin FO, Akbas YB, Yildiz BK, Yildirim Y.   +5 more
europepmc   +1 more source

Cerebrotendinous Xanthomatosis: A Rare Etiology of the "Hot-Cross Bun" Sign. [PDF]

Ann Indian Acad Neurol, 2023
Rani D, Singla D, Garg D.
europepmc   +1 more source

Device-Aided Treatment of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]

Mov Disord Clin Pract
Salamon A, Szpisjak L, Klivényi P, Zádori D.   +3 more
europepmc   +1 more source

Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis. [PDF]

Nutrients, 2023
Majait S, Meessen ECE, Vaz FM, Kemper EM, Nierop SV, Olde Damink SW, Schaap FG, Romijn JA, Nieuwdorp M, Verrips A, Knop FK, Soeters MR.   +11 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease

Clinics, 2010
Ana Claudia Rodrigues de Cerqueira, Antônio Egídio Nardi, Jose Marcelo Ferreira Bezerra   +2 more
doaj   +1 more source

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond. [PDF]

Metab Brain Dis
Calisgan K, Zubarioglu T, İsat E, Babazade H, Akca-Yesil S, Akbulut S, Uygur E, Keskin V, Cirkin B, Durcan G, Dogangun B, Cansever MS, Aktuglu-Zeybek AC, Kiykim E.   +13 more
europepmc   +1 more source