Results 121 to 130 of about 4,294 (176)

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 Case of Cerebrotendinous Xanthomatosis - Clinical Implications of Delayed Diagnosis

Journal of Nature and Science of Medicine
Mansoor C. Abdullah
semanticscholar   +1 more source

VII. Cerebrotendinous Xanthomatosis

Nihon Naika Gakkai Zasshi
Shingo Koyama
semanticscholar   +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

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

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

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Cerebrotendinous Xanthomatosis

Neurologic Clinics, 1989
Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile.
V M, Berginer, G, Salen, S, Shefer
openaire   +3 more sources