Results 111 to 120 of about 2,521 (182)

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review. [PDF]

Brain Sci, 2023
Ribeiro RM, Vasconcelos SC, Lima PLGSB, Coelho EF, Oliveira AMN, Gomes EABM, Mota LA, Radtke LS, Carvalho MDS, Araújo DABS, Pinheiro MSN, Gama VCV, Júnior RMM, Braga Neto P, Nóbrega PR.   +14 more
europepmc   +1 more source

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]

Int J Mol Sci
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings. [PDF]

Radiol Case Rep
Khan HG, Raj G, Yadav E, Gupta K, Kulshreshtha D, Ratna, Panda A, Kumar Y.   +7 more
europepmc   +1 more source

Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews. [PDF]

Mol Genet Metab
Hanson J, Bonnen PE.
europepmc   +1 more source

Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving <i>CYP27A1(C.526del)</i>. [PDF]

JCEM Case Rep
Roy A, Roy SK, Das S.
europepmc   +1 more source

Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity. [PDF]

Epilepsy Behav Rep
Mills Z, Houston JT, Thomas A, Shoenmeyer K.   +3 more
europepmc   +1 more source

Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy. [PDF]

Orphanet J Rare Dis
Pasternack G, Courtney J, Kalsi G.
europepmc   +1 more source

Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia. [PDF]

J Mov Disord
Wang WS, Chiu YP, Tsai MH, Wu SL, Chen YC.   +4 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. [PDF]

Eur J Neurol
O'Keefe E, Kiernan M, Huynh W.
europepmc   +1 more source

A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]

Mol Syndromol
Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, Tükün A, Teber ST, Coşkun T.   +5 more
europepmc   +1 more source