Results 131 to 140 of about 2,313 (193)

Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis

, 2020
Jordan Burgess, Diba Behzad‐Noori, Cheryl Longman, Kathryn Brennan   +3 more
openalex   +2 more sources

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention. [PDF]

Brain Sci
Camelo-Filho AE, Lima PLGSB, Cavalcante FLHB, Miyajima OR, Santos CF, da Rosa RF, Pessoa ALS, Braga-Neto P, Nóbrega PR.   +8 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity

, 2000
Maria Teresa Dotti, Antonio Federico, Rita Garuti, S. Calandra   +3 more
openalex   +2 more sources

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome. [PDF]

J Lipid Res
Westbye AB, Dizdarevic LL, Dahl SR, Asprusten EA, Bliksrud YT, Sandblom AL, Diczfalusy U, Thorsby PM, Retterstøl K.   +8 more
europepmc   +1 more source

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

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

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

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

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