DeBarber AE - Search Results

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. DeBarber AE, et al. J Clin Lipidol. 2024 Mar 15:S1933-2874(24)00039-4. doi: 10.1016/j.jacl.2024.03.004. Online ahead of print. J Clin Lipidol. 2024. PMID: 38637260

2

Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies.

Zaccai TCF, Hassin-Baer S, Kfir NC, Duell PB, Neerhof M, Sloma R, Roitman M, Kisanuki YY, Verrips A, DeBarber AE. Zaccai TCF, et al. Among authors: debarber ae. Genet Med. 2024 May;26(5):101086. doi: 10.1016/j.gim.2024.101086. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288684 Free article.

3

Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives.

Steiner RD, DeBarber A, Larson A, Blanchard B, Laurie S, Odedara N, Rosengrant H, Dutta R. Steiner RD, et al. Adv Ther. 2024 Feb;41(2):467-475. doi: 10.1007/s12325-023-02687-8. Epub 2023 Dec 19. Adv Ther. 2024. PMID: 38110654 Free PMC article.

4

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. Vaz FM, et al. Among authors: debarber ae. Clin Chim Acta. 2023 Jan 15;539:170-174. doi: 10.1016/j.cca.2022.12.011. Epub 2022 Dec 16. Clin Chim Acta. 2023. PMID: 36529270 Free PMC article.

5

Effect of PCSK9 inhibition on plasma levels of small dense low density lipoprotein-cholesterol and 7-ketocholesterol.

Mahmood T, Miles JR, Minnier J, Tavori H, DeBarber AE, Fazio S, Shapiro MD. Mahmood T, et al. Among authors: debarber ae. J Clin Lipidol. 2024 Jan-Feb;18(1):e50-e58. doi: 10.1016/j.jacl.2023.10.009. Epub 2023 Oct 22. J Clin Lipidol. 2024. PMID: 37923663

6

Apolipoprotein E Isoform-specific changes related to stress and trauma exposure.

Torres ERS, Luo J, Boehnlein JK, Towns D, Kinzie JD, DeBarber AE, Raber J. Torres ERS, et al. Among authors: debarber ae. Transl Psychiatry. 2022 Mar 28;12(1):125. doi: 10.1038/s41398-022-01848-7. Transl Psychiatry. 2022. PMID: 35347119 Free PMC article.

7

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. Höflinger P, et al. Among authors: debarber ae. J Lipid Res. 2021;62:100078. doi: 10.1016/j.jlr.2021.100078. Epub 2021 Apr 20. J Lipid Res. 2021. PMID: 33891937 Free PMC article.

8

Update on cerebrotendinous xanthomatosis.

DeBarber AE, Duell PB. DeBarber AE, et al. Curr Opin Lipidol. 2021 Apr 1;32(2):123-131. doi: 10.1097/MOL.0000000000000740. Curr Opin Lipidol. 2021. PMID: 33630770 Review.

9

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. Hong X, et al. Among authors: debarber ae. Genet Med. 2020 Oct;22(10):1606-1612. doi: 10.1038/s41436-020-0846-x. Epub 2020 Jun 10. Genet Med. 2020. PMID: 32523054 Free PMC article.

10

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. DeBarber AE, et al. J Lipid Res. 2018 Nov;59(11):2214-2222. doi: 10.1194/jlr.M087999. Epub 2018 Aug 22. J Lipid Res. 2018. PMID: 30135217 Free PMC article.

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