BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 33891937)

  • 21. Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid.
    Islam M; Hoggard N; Hadjivassiliou M
    Cerebellum Ataxias; 2021 Jan; 8(1):5. PubMed ID: 33509302
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.
    Mandia D; Chaussenot A; Besson G; Lamari F; Castelnovo G; Curot J; Duval F; Giral P; Lecerf JM; Roland D; Pierdet H; Douillard C; Nadjar Y
    J Neurol; 2019 Aug; 266(8):2043-2050. PubMed ID: 31115677
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis.
    Degrassi I; Amoruso C; Giordano G; Del Puppo M; Mignarri A; Dotti MT; Naturale M; Nebbia G
    Front Pediatr; 2020; 8():382. PubMed ID: 32766184
    [No Abstract]   [Full Text] [Related]  

  • 24. Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis.
    Honda A; Salen G; Matsuzaki Y; Batta AK; Xu G; Hirayama T; Tint GS; Doy M; Shefer S
    J Lipid Res; 2005 Feb; 46(2):287-96. PubMed ID: 15576845
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma.
    Abdel-Khalik J; Crick PJ; Yutuc E; DeBarber AE; Duell PB; Steiner RD; Laina I; Wang Y; Griffiths WJ
    Biochimie; 2018 Oct; 153():86-98. PubMed ID: 29960034
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge.
    Björkhem I; Hansson M
    Biochem Biophys Res Commun; 2010 May; 396(1):46-9. PubMed ID: 20494109
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
    Vaz FM; Bootsma AH; Kulik W; Verrips A; Wevers RA; Schielen PC; DeBarber AE; Huidekoper HH
    J Lipid Res; 2017 May; 58(5):1002-1007. PubMed ID: 28314860
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Treatment of cerebrotendinous xanthomatosis in pregnancy: Patient and physician perspectives.
    Duell PB; Dutta R; Wolf A; Rosengrant H
    J Clin Lipidol; 2023; 17(5):700-703. PubMed ID: 37543441
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.
    Keren Z; Falik-Zaccai TC
    Pediatr Endocrinol Rev; 2009 Sep; 7(1):6-11. PubMed ID: 19696711
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.
    Guenzel AJ; DeBarber A; Raymond K; Dhamija R
    JIMD Rep; 2021 May; 59(1):3-9. PubMed ID: 33977023
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.
    Amador MDM; Masingue M; Debs R; Lamari F; Perlbarg V; Roze E; Degos B; Mochel F
    J Inherit Metab Dis; 2018 Sep; 41(5):799-807. PubMed ID: 29560583
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 121(2):561-566. PubMed ID: 31875301
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis.
    Salen G; Shefer S; Cheng FW; Dayal B; Batta AK; Tint GS
    J Clin Invest; 1979 Jan; 63(1):38-44. PubMed ID: 762246
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.
    Duell PB; Salen G; Eichler FS; DeBarber AE; Connor SL; Casaday L; Jayadev S; Kisanuki Y; Lekprasert P; Malloy MJ; Ramdhani RA; Ziajka PE; Quinn JF; Su KG; Geller AS; Diffenderfer MR; Schaefer EJ
    J Clin Lipidol; 2018; 12(5):1169-1178. PubMed ID: 30017468
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.
    Yunisova G; Tufekcioglu Z; Dogu O; Bilgic B; Kaleagasi H; Akca Kalem S; Lohmann E; Gurvit HI; Emre M; Hanagasi HA
    Neurodegener Dis; 2019; 19(5-6):218-224. PubMed ID: 32349000
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Cerebrotendinous xanthomatosis.
    Björkhem I
    Curr Opin Lipidol; 2013 Aug; 24(4):283-7. PubMed ID: 23759795
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
    Vaz FM; Jamal Y; Barto R; Gelb MH; DeBarber AE; Wevers RA; Nelen MR; Verrips A; Bootsma AH; Bouva MJ; Kleise N; van der Zee W; He T; Salomons GS; Huidekoper HH
    Clin Chim Acta; 2023 Jan; 539():170-174. PubMed ID: 36529270
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.
    Weissfeld T; Ratliff J
    J Clin Neurosci; 2018 Jul; 53():263-264. PubMed ID: 29731275
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.
    Mou Y; Nandi G; Mukte S; Chai E; Chen Z; Nielsen JE; Nielsen TT; Criscuolo C; Blackstone C; Fraidakis MJ; Li XJ
    Orphanet J Rare Dis; 2023 Apr; 18(1):72. PubMed ID: 37024986
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.