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

por Bleyle, Lisa, Huidekoper, Hidde H., Vaz, Frederic M., Singh, Renu, Steiner, Robert D., DeBarber, Andrea E.
Publicado 2016

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

por Torres, Eileen Ruth S., Luo, Jenny, Boehnlein, James K., Towns, Daniel, Kinzie, J. David, DeBarber, Andrea E., Raber, Jacob
Publicado 2022

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

por Abdel-Khalik, Jonas, Crick, Peter J., Yutuc, Eylan, DeBarber, Andrea E., Duell, P. Barton, Steiner, Robert D., Laina, Ioanna, Wang, Yuqin, Griffiths, William J.
Publicado 2018

Toward Newborn Screening of Cerebrotendinous Xanthomatosis: Results of a Biomarker Research Study Using 32,000 Newborn Dried Blood Spots

por 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.
Publicado 2020

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

por 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
Publicado 2021

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

por 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.
Publicado 2023