Results 101 to 110 of about 1,415 (156)

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

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

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 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

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

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

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

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis. [PDF]

JCEM Case Rep
Guay SP, Paquette M, Poulin V, Levtova A, Baass A, Bernard S.   +5 more
europepmc   +1 more source