Results 121 to 130 of about 2,313 (193)

CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report. [PDF]

World J Clin Cases, 2022
Li ZR, Zhou YL, Jin Q, Xie YY, Meng HM.
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

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis [PDF]

, 2010
Hauke Schneider, Alexandra Lingesleben, Hans-Peter Vogel, Rita Garuti, S. Calandra   +4 more
openalex   +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

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

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

Mol Genet Metab
Hanson J, Bonnen PE.
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

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: 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