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Journal Abstract Search

267 related items for PubMed ID: 28590052

  • 1. Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.
    Alhariri A, Hamilton K, Oza V, Cordoro K, Sobreira NL, Malloy M, Slavotinek A.
    Am J Med Genet A; 2017 Aug; 173(8):2275-2279. PubMed ID: 28590052
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  • 3. Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
    Sasamura A, Akazawa S, Haraguchi A, Horie I, Ando T, Abiru N, Takei H, Nittono H, Une M, Kurosawa T, Murai T, Naruse H, Nakayama T, Kotani K, Remaley AT, Kawakami A.
    Intern Med; 2018 Jun 01; 57(11):1611-1616. PubMed ID: 29434128
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  • 4. Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
    Koyama S, Okabe Y, Suzuki Y, Igari R, Sato H, Iseki C, Tanji K, Suzuki K, Ohta Y.
    BMC Neurol; 2022 May 25; 22(1):193. PubMed ID: 35614401
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  • 5. A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels.
    Takahashi M, Okazaki H, Tada H, Ishibashi S.
    J Clin Lipidol; 2023 May 25; 17(6):834-838. PubMed ID: 37777472
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  • 6. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
    Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C, Bonnen PE.
    Mol Genet Metab; 2015 Dec 25; 116(4):298-304. PubMed ID: 26643207
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  • 8. A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
    Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G.
    Acta Neurol Belg; 2021 Apr 25; 121(2):561-566. PubMed ID: 31875301
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  • 9. Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.
    DeBarber AE, Schaefer EJ, Do J, Ray JW, Larson A, Redder S, Fowler M, Duell PB.
    J Clin Lipidol; 2024 Apr 25; 18(3):e465-e476. PubMed ID: 38637260
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  • 10. [Pathophysiology of cerebrotendinous xanthomatosis].
    Koyama S, Kato T.
    Rinsho Shinkeigaku; 2016 Dec 28; 56(12):821-826. PubMed ID: 27840382
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  • 11. Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?
    Siman-Tov T, Meiner V, Gadoth N.
    J Neurol Sci; 2006 Apr 15; 243(1-2):83-6. PubMed ID: 16445943
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  • 14. A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene.
    Stenos C, Kalafatakis K, Constantoulakis P, Zekiou K, Margoni A, Kardara P, Terentiou A, Stouraitis G, Nikolaou G.
    J Clin Lipidol; 2022 Apr 15; 16(3):281-285. PubMed ID: 35428606
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  • 16. [Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].
    Varga VE, Katkó M, Harangi J, Balogh I, Kapás I, Madar L, Seres I, Molnár MJ, Paragh G, Kovács GG, Harangi M.
    Orv Hetil; 2014 May 25; 155(21):811-6. PubMed ID: 24836315
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