Results 151 to 160 of about 3,665 (213)

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: A Treatable Disease With Juvenile Cataracts as a Presenting Sign

, 2011
Dinelli M. Monson
openalex   +2 more sources

A rare case of cerebrotendinous xanthomatosis with typical clinical & radiological features. [PDF]

Indian J Med Res, 2022
Sengupta A, Laskar S.
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

Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia. [PDF]

BMJ Case Rep, 2022
Magriço M, Cabral P, Bugalho P.
europepmc   +1 more source

FDA approves ctexli for cerebrotendinous xanthomatosis: a long-awaited breakthrough [PDF]

Adan Tariq, Rizwana Noor, A Tariq
openalex   +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

Using fiber tractography and diffusion kurtosis imaging to evaluate neuroimaging changes in patients with cerebrotendinous xanthomatosis after stopping chenodeoxycholic acid treatment for three years

, 2021
Jun‐Jun Lee, Chiung‐Chih Chang, Wen‐Neng Chang   +2 more
openalex   +1 more source

Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice. [PDF]

Front Psychiatry
Kim J, Hong YJ, Lee SB, Kim SH, Lee MA, Ko E, Park JW.   +6 more
europepmc   +1 more source

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. [PDF]

Orphanet J Rare Dis, 2022
Fernández-Eulate G, Martin GC, Dureau P, Speeg-Spatz C, Brassier A, Gillard P, Bremond-Gignac D, Thouvenin D, Pagan C, Lamari F, Nadjar Y.   +10 more
europepmc   +1 more source