Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment
DeBarber, Andrea E., Kalfon, Limor, Fedida, Ayalla, Fleisher Sheffer, Vered, Ben Haroush, Shani, Chasnyk, Natalia, Shuster Biton, Efrat, Mandel, Hanna, Jeffries, Krystal, Shinwell, Eric S., Falik-Zaccai, Tzipora C.
Published in Journal of lipid research (01.11.2018)
Published in Journal of lipid research (01.11.2018)
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Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis
Höflinger, Philip, Hauser, Stefan, Yutuc, Eylan, Hengel, Holger, Griffiths, Lauren, Radelfahr, Florentine, Howell, Owain W., Wang, Yuqin, Connor, Sonja L., Duell, P. Barton, DeBarber, Andrea E., Martus, Peter, Lütjohann, Dieter, Griffiths, William J., Schöls, Ludger
Published in Journal of lipid research (01.01.2021)
Published in Journal of lipid research (01.01.2021)
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Soluble Epoxide Hydrolase Gene Deletion Is Protective Against Experimental Cerebral Ischemia
WENRI ZHANG, OTSUKA, Takashi, SUGO, Nobuo, ARDESHIRI, Ardi, ALHADID, Yazan K, ILIFF, Jeffrey J, DEBARBER, Andrea E, KOOP, Dennis R, ALKAYED, Nabil J
Published in Stroke (1970) (01.07.2008)
Published in Stroke (1970) (01.07.2008)
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A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S]
Vaz, Frédéric M., Bootsma, Albert H., Kulik, Willem, Verrips, Aad, Wevers, Ron A., Schielen, Peter C., DeBarber, Andrea E., Huidekoper, Hidde H.
Published in Journal of lipid research (01.05.2017)
Published in Journal of lipid research (01.05.2017)
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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, David, DeBarber, Andrea E, Bir, Natalie, Binkley, Laura, Merkens, Louise S, Steiner, Robert D, Herman, Gail E
Published in Human molecular genetics (15.05.2015)
Published in Human molecular genetics (15.05.2015)
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Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts
Tibrewal, Sapna, Duell, P. Barton, DeBarber, Andrea E., Loh, Allison R.
Published in Journal of AAPOS (01.12.2017)
Published in Journal of AAPOS (01.12.2017)
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Journal Article
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns
DeBarber, Andrea E., Luo, Jenny, Star-Weinstock, Michal, Purkayastha, Subhasish, Geraghty, Michael T., Chiang, John (Pei-Wen), Merkens, Louise S., Pappu, Anuradha S., Steiner, Robert D.
Published in Journal of lipid research (01.01.2014)
Published in Journal of lipid research (01.01.2014)
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Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe
Othman, Rgia A., PhD, Myrie, Semone B., PhD, Mymin, David, MD, Roullet, Jean-Baptiste, PhD, DeBarber, Andrea E., PhD, Steiner, Robert D., MD, Jones, Peter J.H., PhD
Published in The Journal of pediatrics (01.09.2017)
Published in The Journal of pediatrics (01.09.2017)
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Profiling sterols in cerebrotendinous xanthomatosis: Utility of Girard derivatization and high resolution exact mass LC–ESI-MSⁿ analysis
DeBarber, Andrea E, Sandlers, Yana, Pappu, Anuradha S, Merkens, Louise S, Duell, P. Barton, Lear, Steven R, Erickson, Sandra K, Steiner, Robert D
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.05.2011)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.05.2011)
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Look carefully to the heels! A potentially treatable cause of spastic paraplegia
Saute, Jonas Alex, Giugliani, Roberto, Merkens, Louise S., Chiang, John (Pei-Wen), DeBarber, Andrea E., de Souza, Carolina Fischinger Moura
Published in Journal of inherited metabolic disease (01.03.2015)
Published in Journal of inherited metabolic disease (01.03.2015)
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Unique Mechanism of Action of the Thiourea Drug Isoxyl on Mycobacterium tuberculosis
Phetsuksiri, Benjawan, Jackson, Mary, Scherman, Hataichanok, McNeil, Michael, Besra, Gurdyal S., Baulard, Alain R., Slayden, Richard A., DeBarber, Andrea E., Barry, Clifton E., Baird, Mark S., Crick, Dean C., Brennan, Patrick J.
Published in The Journal of biological chemistry (26.12.2003)
Published in The Journal of biological chemistry (26.12.2003)
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Journal Article
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method
Bleyle, Lisa, Huidekoper, Hidde H., Vaz, Frederic M., Singh, Renu, Steiner, Robert D., DeBarber, Andrea E.
Published in Molecular genetics and metabolism reports (01.06.2016)
Published in Molecular genetics and metabolism reports (01.06.2016)
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Effect of PCSK9 inhibition on plasma levels of small dense low density lipoprotein-cholesterol and 7-ketocholesterol
Mahmood, Tahir, Miles, Joshua R., Minnier, Jessica, Tavori, Hagai, DeBarber, Andrea E., Fazio, Sergio, Shapiro, Michael D.
Published in Journal of clinical lipidology (01.01.2024)
Published in Journal of clinical lipidology (01.01.2024)
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Journal Article
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
Duell, P. Barton, Salen, Gerald, Eichler, Florian S., DeBarber, Andrea E., Connor, Sonja L., Casaday, Lise, Jayadev, Suman, Kisanuki, Yasushi, Lekprasert, Patamaporn, Malloy, Mary J., Ramdhani, Ritesh A., Ziajka, Paul E., Quinn, Joseph F., Su, Kimmy G., Geller, Andrew S., Diffenderfer, Margaret R., Schaefer, Ernst J.
Published in Journal of clinical lipidology (01.09.2018)
Published in Journal of clinical lipidology (01.09.2018)
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Journal Article
Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies
Zaccai, Tzipora C. Falik, Hassin-Baer, Sharon, Kfir, Nehama Cohen, Duell, P. Barton, Neerhof, Mark, Sloma, Ronen, Roitman, Melanie, Kisanuki, Yaz Y., Verrips, Aad, DeBarber, Andrea E.
Published in Genetics in medicine (01.05.2024)
Published in Genetics in medicine (01.05.2024)
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Journal Article
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots
Hong, Xinying, Daiker, Jessica, Sadilek, Martin, DeBarber, Andrea E., Chiang, John, Duan, Jie, Bootsma, Albert H., Huidekoper, Hidde H., Vaz, Frédéric M., Gelb, Michael H.
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
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Journal Article
Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols
DeBarber, Andrea E., Schaefer, Ernst J., Do, Jenny, Ray, Joseph W, Larson, Austin, Redder, Samantha, Fowler, Maya, Duell, P. Barton
Published in Journal of clinical lipidology (01.05.2024)
Published in Journal of clinical lipidology (01.05.2024)
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Journal Article
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Vaz, Frédéric M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, Ron A., Nelen, Marcel R., Verrips, Aad, Bootsma, Albert H., Bouva, Marelle J., Kleise, Nick, van der Zee, Walter, He, Tao, Salomons, Gajja S., Huidekoper, Hidde H.
Published in Clinica chimica acta (15.01.2023)
Published in Clinica chimica acta (15.01.2023)
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