208 related articles for article (PubMed ID: 24186955)
1. A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.
DeBarber AE; Luo J; Star-Weinstock M; Purkayastha S; Geraghty MT; Chiang JP; Merkens LS; Pappu AS; Steiner RD
J Lipid Res; 2014 Jan; 55(1):146-54. PubMed ID: 24186955
[TBL] [Abstract][Full Text] [Related]
2. 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; 47(9):860-3. PubMed ID: 24769274
[TBL] [Abstract][Full Text] [Related]
3. Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.
Bleyle L; Huidekoper HH; Vaz FM; Singh R; Steiner RD; DeBarber AE
Mol Genet Metab Rep; 2016 Jun; 7():11-5. PubMed ID: 27331003
[TBL] [Abstract][Full Text] [Related]
4. ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis.
DeBarber AE; Connor WE; Pappu AS; Merkens LS; Steiner RD
Clin Chim Acta; 2010 Jan; 411(1-2):43-8. PubMed ID: 19808031
[TBL] [Abstract][Full Text] [Related]
5. Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Hong X; Daiker J; Sadilek M; DeBarber AE; Chiang J; Duan J; Bootsma AH; Huidekoper HH; Vaz FM; Gelb MH
Genet Med; 2020 Oct; 22(10):1606-1612. PubMed ID: 32523054
[TBL] [Abstract][Full Text] [Related]
6. Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.
DeBarber AE; Kalfon L; Fedida A; Fleisher Sheffer V; Ben Haroush S; Chasnyk N; Shuster Biton E; Mandel H; Jeffries K; Shinwell ES; Falik-Zaccai TC
J Lipid Res; 2018 Nov; 59(11):2214-2222. PubMed ID: 30135217
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis.
DeBarber AE; Sandlers Y; Pappu AS; Merkens LS; Duell PB; Lear SR; Erickson SK; Steiner RD
J Chromatogr B Analyt Technol Biomed Life Sci; 2011 May; 879(17-18):1384-92. PubMed ID: 21168372
[TBL] [Abstract][Full Text] [Related]
10. Update on cerebrotendinous xanthomatosis.
DeBarber AE; Duell PB
Curr Opin Lipidol; 2021 Apr; 32(2):123-131. PubMed ID: 33630770
[TBL] [Abstract][Full Text] [Related]
11. Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
Pajares S; Arias A; García-Villoria J; Macías-Vidal J; Ros E; de las Heras J; Girós M; Coll MJ; Ribes A
J Lipid Res; 2015 Oct; 56(10):1926-35. PubMed ID: 26239048
[TBL] [Abstract][Full Text] [Related]
12. [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; 155(21):811-6. PubMed ID: 24836315
[TBL] [Abstract][Full Text] [Related]
13. Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
Huidekoper HH; Vaz FM; Verrips A; Bosch AM
Eur J Pediatr; 2016 Jan; 175(1):143-6. PubMed ID: 26156051
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX.
Honda A; Salen G; Matsuzaki Y; Batta AK; Xu G; Leitersdorf E; Tint GS; Erickson SK; Tanaka N; Shefer S
J Lipid Res; 2001 Feb; 42(2):291-300. PubMed ID: 11181760
[TBL] [Abstract][Full Text] [Related]
16. Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report.
Matysik S; Orsó E; Black A; Ahrens N; Schmitz G
Chem Phys Lipids; 2011 Sep; 164(6):530-4. PubMed ID: 21679699
[TBL] [Abstract][Full Text] [Related]
17. Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
Mignarri A; Magni A; Del Puppo M; Gallus GN; Björkhem I; Federico A; Dotti MT
J Inherit Metab Dis; 2016 Jan; 39(1):75-83. PubMed ID: 26153518
[TBL] [Abstract][Full Text] [Related]
18. Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study.
Stelten BML; Dotti MT; Verrips A; Elibol B; Falik-Zaccai TC; Hanman K; Mignarri A; Sithole B; Steiner RD; Verma S; Yahalom G; Zubarioglu T; Mochel F; Federico A
Orphanet J Rare Dis; 2021 Aug; 16(1):353. PubMed ID: 34362411
[TBL] [Abstract][Full Text] [Related]
19. Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.
Höflinger P; Hauser S; Yutuc E; Hengel H; Griffiths L; Radelfahr F; Howell OW; Wang Y; Connor SL; Duell PB; DeBarber AE; Martus P; Lütjohann D; Griffiths WJ; Schöls L
J Lipid Res; 2021; 62():100078. PubMed ID: 33891937
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]