Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment von 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.

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Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis von 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

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Soluble Epoxide Hydrolase Gene Deletion Is Protective Against Experimental Cerebral Ischemia von WENRI ZHANG, OTSUKA, Takashi, SUGO, Nobuo, ARDESHIRI, Ardi, ALHADID, Yazan K, ILIFF, Jeffrey J, DEBARBER, Andrea E, KOOP, Dennis R, ALKAYED, Nabil J

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Apolipoprotein E Isoform-specific changes related to stress and trauma exposure von Torres, Eileen Ruth S., Luo, Jenny, Boehnlein, James K., Towns, Daniel, Kinzie, J. David, DeBarber, Andrea E., Raber, Jacob

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A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S] von Vaz, Frédéric M., Bootsma, Albert H., Kulik, Willem, Verrips, Aad, Wevers, Ron A., Schielen, Peter C., DeBarber, Andrea E., Huidekoper, Hidde H.

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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 von Cunningham, David, DeBarber, Andrea E, Bir, Natalie, Binkley, Laura, Merkens, Louise S, Steiner, Robert D, Herman, Gail E

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Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts von Tibrewal, Sapna, Duell, P. Barton, DeBarber, Andrea E., Loh, Allison R.

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A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns von 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.

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Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe von 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

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Profiling sterols in cerebrotendinous xanthomatosis: Utility of Girard derivatization and high resolution exact mass LC–ESI-MSⁿ analysis von DeBarber, Andrea E, Sandlers, Yana, Pappu, Anuradha S, Merkens, Louise S, Duell, P. Barton, Lear, Steven R, Erickson, Sandra K, Steiner, Robert D

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Unique Mechanism of Action of the Thiourea Drug Isoxyl on Mycobacterium tuberculosis von 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.

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Look carefully to the heels! A potentially treatable cause of spastic paraplegia von Saute, Jonas Alex, Giugliani, Roberto, Merkens, Louise S., Chiang, John (Pei-Wen), DeBarber, Andrea E., de Souza, Carolina Fischinger Moura

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Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis von 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.

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Effect of PCSK9 inhibition on plasma levels of small dense low density lipoprotein-cholesterol and 7-ketocholesterol von Mahmood, Tahir, Miles, Joshua R., Minnier, Jessica, Tavori, Hagai, DeBarber, Andrea E., Fazio, Sergio, Shapiro, Michael D.

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Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method von Bleyle, Lisa, Huidekoper, Hidde H., Vaz, Frederic M., Singh, Renu, Steiner, Robert D., DeBarber, Andrea E.

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

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Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots von 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.

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Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols von DeBarber, Andrea E., Schaefer, Ernst J., Do, Jenny, Ray, Joseph W, Larson, Austin, Redder, Samantha, Fowler, Maya, Duell, P. Barton

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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns von 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.

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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 von Abdel-Khalik, Jonas, Crick, Peter J., Yutuc, Eylan, DeBarber, Andrea E., Duell, P. Barton, Steiner, Robert D., Laina, Ioanna, Wang, Yuqin, Griffiths, William J.

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