Product development and quality of pharmacy compounded chenodeoxycholic acid capsules for Dutch cerebrotendinous xanthomatosis patients. [PDF]
Front Pharmacol, 2023 Bouwhuis N, Jacobs BAW, Kemper EM.
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Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation. [PDF]
Cureus, 2023 Mahadevan N, Thiruvadi V, C P, A R, A M.
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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.
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Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings. [PDF]
Radiol Case RepKhan HG +7 more
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Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving <i>CYP27A1(C.526del)</i>. [PDF]
JCEM Case RepRoy A, Roy SK, Das S.
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Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews. [PDF]
Mol Genet MetabHanson J, Bonnen PE.
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Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy. [PDF]
Orphanet J Rare DisPasternack G, Courtney J, Kalsi G.
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Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia. [PDF]
J Mov DisordWang WS +4 more
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A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]
Mol SyndromolCesur Baltacı HN +5 more
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Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. [PDF]
Eur J NeurolO'Keefe E, Kiernan M, Huynh W.
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