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Journal Abstract Search

134 related items for PubMed ID: 38637260

  • 1. 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; 18(3):e465-e476. PubMed ID: 38637260
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  • 2. Hydrophilic 7 beta-hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosis.
    Batta AK, Salen G, Tint GS.
    Metabolism; 2004 May; 53(5):556-62. PubMed ID: 15131757
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  • 3. 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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  • 4. Rare genetic cerebrotendinous xanthomatosis (CTX) cases without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.
    Alves RJ, Nunes VS, Junior NCDCB, Nakandakare ER, Quintão ECR.
    J Clin Lipidol; 2024 Aug; 18(4):e631-e635. PubMed ID: 38906752
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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 Aug; 17(6):834-838. PubMed ID: 37777472
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  • 7. Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis.
    van Heijst AF, Wevers RA, Tangerman A, Cruysberg JR, Renier WO, Tolboom JJ.
    Acta Paediatr; 1996 Aug; 85(8):932-6. PubMed ID: 8863874
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  • 8. Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis.
    Clarenbach JJ, Lindenthal B, Dotti MT, Federico A, Kelleher JK, von Bergmann K.
    Metabolism; 2005 Mar; 54(3):335-44. PubMed ID: 15736111
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  • 9. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
    Salen G, Steiner RD.
    J Inherit Metab Dis; 2017 Nov; 40(6):771-781. PubMed ID: 28980151
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  • 10. 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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  • 11. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
    Moghadasian MH.
    Clin Invest Med; 2004 Feb 15; 27(1):42-50. PubMed ID: 15061585
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  • 12. 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 15; 121(2):561-566. PubMed ID: 31875301
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  • 13. A useful multi-analyte blood test for cerebrotendinous xanthomatosis.
    DeBarber AE, Luo J, Giugliani R, Souza CF, Chiang JP, Merkens LS, Pappu AS, Steiner RD.
    Clin Biochem; 2014 Jun 15; 47(9):860-3. PubMed ID: 24769274
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  • 14. Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.
    Guenzel AJ, DeBarber A, Raymond K, Dhamija R.
    JIMD Rep; 2021 May 15; 59(1):3-9. PubMed ID: 33977023
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  • 15. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
    Nie S, Chen G, Cao X, Zhang Y.
    Orphanet J Rare Dis; 2014 Nov 26; 9():179. PubMed ID: 25424010
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  • 19. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
    Zubarioglu T, Kıykım E, Köse E, Eminoğlu FT, Teke Kısa P, Balcı MC, Özer I, İnci A, Çilesiz K, Canda E, Yazıcı H, Öztürk-Hişmi B, Bulut FD, Dorum S, Akgun A, Yalçın-Çakmaklı G, Kılıç-Yıldırım G, Soyuçen E, Akçalı A, Güneş D, Durmuş A, Gündüz A, Kasapkara ÇS, Göksoy E, Akar HT, Ersoy M, Erdöl Ş, Yıldız Y, Hanağası HA, Arslan N, Aktuğlu-Zeybek Ç.
    Mol Genet Metab; 2024 Jun 26; 142(2):108493. PubMed ID: 38772327
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  • 20. [Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics].
    Preiss Y, Santos JL, Smalley SV, Maiz A.
    Rev Med Chil; 2014 May 26; 142(5):616-22. PubMed ID: 25427019
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