Results 171 to 180 of about 3,665 (213)

Corrigendum: Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023. [PDF]

Front Neurol
Luo F, Ding Y, Zhang S, Diao J, Yuan B.
europepmc   +1 more source

Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report. [PDF]

Medicine (Baltimore)
Zhao W, Han J, Tao D, Zheng H.
europepmc   +1 more source

Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study. [PDF]

Mol Syndromol
Karadag M, Turan MI, Celebi C, Caglar T.
europepmc   +1 more source

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

Klivényi Péter, Salamon András, Szpisjak László, Zádori Dénes   +3 more
core   +1 more source

Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis. [PDF]

Sci Rep
Sixto-López Y, Mendoza-Figueroa HL, Landeros-Rivera B, Camacho-Molina A, Correa-Basurto J.   +4 more
europepmc   +1 more source

The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease

, 2016
Francesca Rosafio, Francesco Cavallieri, Pietro Guaraldi, Franco Taroni, Paolo Nichelli, Jessica Mandrioli   +5 more
openalex   +2 more sources

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia. [PDF]

Mol Genet Metab Rep
Alsaleem BM, Ahmed AB, Alruwaithi MM, Alamery TY, Alrajhi NN.   +4 more
europepmc   +1 more source

Cerebrotendinous Xanthomatosis: Literally an Orphan Disease in Brazil: Case Report

, 2017
Silva Emanuelle Bianchi da, Oliveira Brenda Camila Reck de, Silva Taline Alisson Artemis Lazzarin, Schran Letícia da Silva, Carrilho Paulo Eduardo Mestrinelli   +4 more
openalex   +1 more source

Role of Bile Acid Pathway Intermediates in Pathology of CTX [PDF]

Eylan Yutuc, Mohsen Ali Asgari, William Griffiths, Yuqin Wang   +3 more
core   +1 more source

Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives. [PDF]

Adv Ther
Steiner RD, DeBarber A, Larson A, Blanchard B, Laurie S, Odedara N, Rosengrant H, Dutta R.   +7 more
europepmc   +1 more source