Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

by Lisa Bleyle, Hidde H. Huidekoper, Frederic M. Vaz, Renu Singh, Robert D. Steiner, Andrea E. DeBarber
Published 2016-06-01

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S]

by Frédéric M. Vaz, Albert H. Bootsma, Willem Kulik, Aad Verrips, Ron A. Wevers, Peter C. Schielen, Andrea E. DeBarber, Hidde H. Huidekoper
Published 2017-05-01

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

by Andrea E. DeBarber, Jenny Luo, Michal Star-Weinstock, Subhasish Purkayastha, Michael T. Geraghty, John (Pei-Wen) Chiang, Louise S. Merkens, Anuradha S. Pappu, Robert D. Steiner
Published 2014-01-01

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

by Andrea E. DeBarber, Limor Kalfon, Ayalla Fedida, Vered Fleisher Sheffer, Shani Ben Haroush, Natalia Chasnyk, Efrat Shuster Biton, Hanna Mandel, Krystal Jeffries, Eric S. Shinwell, Tzipora C. Falik-Zaccai
Published 2018-11-01

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

by Philip Höflinger, Stefan Hauser, Eylan Yutuc, Holger Hengel, Lauren Griffiths, Florentine Radelfahr, Owain W. Howell, Yuqin Wang, Sonja L. Connor, P. Barton Duell, Andrea E. DeBarber, Peter Martus, Dieter Lütjohann, William J. Griffiths, Ludger Schöls
Published 2021-01-01