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Items: 37

1.

Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.

Freedman SF, Brennand C, Chiang J, DeBarber A, Del Monte MA, Duell PB, Fiorito J, Marshall R.

JAMA Ophthalmol. 2019 Sep 19. doi: 10.1001/jamaophthalmol.2019.3639. [Epub ahead of print]

2.

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. doi: 10.1194/jlr.M087999. Epub 2018 Aug 22.

3.

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 Sep - Oct;12(5):1169-1178. doi: 10.1016/j.jacl.2018.06.008. Epub 2018 Jun 22.

4.

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. doi: 10.1016/j.biochi.2018.06.020. Epub 2018 Jun 28.

5.

Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts.

Tibrewal S, Duell PB, DeBarber AE, Loh AR.

J AAPOS. 2017 Dec;21(6):505-507. doi: 10.1016/j.jaapos.2017.07.211. Epub 2017 Oct 24.

PMID:
29079218
6.

Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe.

Othman RA, Myrie SB, Mymin D, Roullet JB, DeBarber AE, Steiner RD, Jones PJH.

J Pediatr. 2017 Sep;188:198-204.e1. doi: 10.1016/j.jpeds.2017.05.049. Epub 2017 Jun 16.

7.

Intravenous Fish Oil and Pediatric Intestinal Failure-Associated Liver Disease: Changes in Plasma Phytosterols, Cytokines, and Bile Acids and Erythrocyte Fatty Acids.

Calkins KL, DeBarber A, Steiner RD, Flores MJ, Grogan TR, Henning SM, Reyen L, Venick RS.

JPEN J Parenter Enteral Nutr. 2018 Mar;42(3):633-641. doi: 10.1177/0148607117709196. Epub 2017 Dec 18.

8.

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. doi: 10.1194/jlr.P075051. Epub 2017 Mar 17.

9.

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 Mar 12;7:11-5. doi: 10.1016/j.ymgmr.2016.02.002. eCollection 2016 Jun.

10.

Concentration Accuracy of Compounded Mitomycin C for Ophthalmic Surgery.

Kinast RM, Akula KK, Mansberger SL, Barker GT, Gardiner SK, Whitson E, DeBarber AE.

JAMA Ophthalmol. 2016 Feb;134(2):191-5. doi: 10.1001/jamaophthalmol.2015.4970.

PMID:
26661632
11.

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;116(4):298-304. doi: 10.1016/j.ymgme.2015.10.010. Epub 2015 Oct 26.

12.

The Degradation of Mitomycin C Under Various Storage Methods.

Kinast RM, Akula KK, DeBarber AE, Barker GT, Gardiner SK, Whitson E, Mansberger SL.

J Glaucoma. 2016 Jun;25(6):477-81. doi: 10.1097/IJG.0000000000000287.

PMID:
26020687
13.

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.

Schrodi SJ, DeBarber A, He M, Ye Z, Peissig P, Van Wormer JJ, Haws R, Brilliant MH, Steiner RD.

Hum Genet. 2015 Jun;134(6):659-69. doi: 10.1007/s00439-015-1551-8. Epub 2015 Apr 19.

PMID:
25893794
14.

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Cunningham D, DeBarber AE, Bir N, Binkley L, Merkens LS, Steiner RD, Herman GE.

Hum Mol Genet. 2015 May 15;24(10):2808-25. doi: 10.1093/hmg/ddv042. Epub 2015 Feb 4.

15.

Look carefully to the heels! A potentially treatable cause of spastic paraplegia.

Saute JA, Giugliani R, Merkens LS, Chiang JP, DeBarber AE, de Souza CF.

J Inherit Metab Dis. 2015 Mar;38(2):363-4. doi: 10.1007/s10545-014-9745-0. Epub 2014 Aug 12. No abstract available.

PMID:
25112387
16.

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. doi: 10.1016/j.clinbiochem.2014.04.017. Epub 2014 Apr 21.

17.

Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner.

Johnson LA, Olsen RH, Merkens LS, DeBarber A, Steiner RD, Sullivan PM, Maeda N, Raber J.

Neurobiol Dis. 2014 Apr;64:150-62. doi: 10.1016/j.nbd.2013.12.016. Epub 2014 Jan 9.

18.

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. doi: 10.1194/jlr.P043273. Epub 2013 Nov 2.

19.

Liver x receptor modulation of gene expression leading to proluteolytic effects in primate luteal cells.

Bogan RL, Debarber AE, Hennebold JD.

Biol Reprod. 2012 Mar 30;86(3):89. doi: 10.1095/biolreprod.111.096347. Print 2012 Mar.

20.

Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign.

Monson DM, DeBarber AE, Bock CJ, Anadiotis G, Merkens LS, Steiner RD, Stout AU.

Arch Ophthalmol. 2011 Aug;129(8):1087-8. doi: 10.1001/archophthalmol.2011.219. No abstract available.

21.

Smith-Lemli-Opitz syndrome.

DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD.

Expert Rev Mol Med. 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. Review.

22.

Determination of cortisol production rates with contemporary liquid chromatography-mass spectrometry to measure cortisol-d(3) dilution after infusion of deuterated tracer.

Klopfenstein BJ, Purnell JQ, Brandon DD, Isabelle LM, DeBarber AE.

Clin Biochem. 2011 Apr;44(5-6):430-4. doi: 10.1016/j.clinbiochem.2010.12.008. Epub 2010 Dec 23.

23.

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 15;879(17-18):1384-92. doi: 10.1016/j.jchromb.2010.11.019. Epub 2010 Nov 23.

24.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.

Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.

25.

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. doi: 10.1016/j.cca.2009.09.036. Epub 2009 Oct 3.

PMID:
19808031
26.

Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.

Merkens LS, Wassif C, Healy K, Pappu AS, DeBarber AE, Penfield JA, Lindsay RA, Roullet JB, Porter FD, Steiner RD.

Genet Med. 2009 May;11(5):359-64. doi: 10.1097/GIM.0b013e31819b246e.

27.

Iodothyronamines are oxidatively deaminated to iodothyroacetic acids in vivo.

Wood WJ, Geraci T, Nilsen A, DeBarber AE, Scanlan TS.

Chembiochem. 2009 Jan 26;10(2):361-5. doi: 10.1002/cbic.200800607.

28.

Validation of a liquid chromatography-tandem mass spectrometry method to enable quantification of 3-iodothyronamine from serum.

DeBarber AE, Geraci T, Colasurdo VP, Hackenmueller SA, Scanlan TS.

J Chromatogr A. 2008 Nov 7;1210(1):55-9. doi: 10.1016/j.chroma.2008.09.022. Epub 2008 Sep 12.

29.

Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol.

DeBarber AE, Lütjohann D, Merkens L, Steiner RD.

Anal Biochem. 2008 Oct 1;381(1):151-3. doi: 10.1016/j.ab.2008.05.037. Epub 2008 Jun 13.

30.

Soluble epoxide hydrolase gene deletion is protective against experimental cerebral ischemia.

Zhang W, Otsuka T, Sugo N, Ardeshiri A, Alhadid YK, Iliff JJ, DeBarber AE, Koop DR, Alkayed NJ.

Stroke. 2008 Jul;39(7):2073-8. doi: 10.1161/STROKEAHA.107.508325. Epub 2008 Mar 27.

31.

3-Iodothyronamine: a novel hormone controlling the balance between glucose and lipid utilisation.

Braulke LJ, Klingenspor M, DeBarber A, Tobias SC, Grandy DK, Scanlan TS, Heldmaier G.

J Comp Physiol B. 2008 Feb;178(2):167-77. Epub 2007 Oct 3.

PMID:
17912534
32.

Polymorphisms in the human soluble epoxide hydrolase gene EPHX2 linked to neuronal survival after ischemic injury.

Koerner IP, Jacks R, DeBarber AE, Koop D, Mao P, Grant DF, Alkayed NJ.

J Neurosci. 2007 Apr 25;27(17):4642-9.

33.

Cardiac effects of 3-iodothyronamine: a new aminergic system modulating cardiac function.

Chiellini G, Frascarelli S, Ghelardoni S, Carnicelli V, Tobias SC, DeBarber A, Brogioni S, Ronca-Testoni S, Cerbai E, Grandy DK, Scanlan TS, Zucchi R.

FASEB J. 2007 May;21(7):1597-608. Epub 2007 Feb 6.

PMID:
17284482
34.

Omega-hydroxylation of farnesol by mammalian cytochromes p450.

DeBarber AE, Bleyle LA, Roullet JB, Koop DR.

Biochim Biophys Acta. 2004 Jun 1;1682(1-3):18-27.

PMID:
15158752
35.

Unique mechanism of action of the thiourea drug isoxyl on Mycobacterium tuberculosis.

Phetsuksiri B, Jackson M, Scherman H, McNeil M, Besra GS, Baulard AR, Slayden RA, DeBarber AE, Barry CE 3rd, Baird MS, Crick DC, Brennan PJ.

J Biol Chem. 2003 Dec 26;278(52):53123-30. Epub 2003 Oct 14.

36.

Analysis of differential substrate selectivities of CYP2B6 and CYP2E1 by site-directed mutagenesis and molecular modeling.

Spatzenegger M, Liu H, Wang Q, Debarber A, Koop DR, Halpert JR.

J Pharmacol Exp Ther. 2003 Jan;304(1):477-87.

PMID:
12490624
37.

Ethionamide activation and sensitivity in multidrug-resistant Mycobacterium tuberculosis.

DeBarber AE, Mdluli K, Bosman M, Bekker LG, Barry CE 3rd.

Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9677-82.

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