Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Autor: Diaz, George A. ^a, Schulze, Andreas ^b, Longo, Nicola ^c, Rhead, William ^d, Feigenbaum, Annette ^b, Wong, Derek ^e, Merritt, J. Lawrence, II ^f, Berquist, William ^g, Gallagher, Renata C. ^h, Bartholomew, Dennis ⁱ, McCandless, Shawn E. ^j, Smith, Wendy E. ^k, Harding, Cary O. ^l, Zori, Roberto ^m, Lichter-Konecki, Uta ⁿ, Vockley, Jerry ^{n, o}, Canavan, Colleen ^p, Vescio, Thomas ^p, Holt, Robert J. ^{p, ⁎}, Berry, Susan A. ^q

Publikováno v: In Molecular Genetics and Metabolism August 2019 127(4):336-345

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Autor: Thomas, Janet ^g, Dodge, Melinda ^g, Singh, Rani ^h, Lakshman, Sangeetha ^h, Coakley, Katie ^h, Stembridge, Adrya ^h, Russi, Alvaro Serrano ⁱ, Phillips, Emily ⁱ, Burton, Barbara ^j, Edano, Clare ^j, Shrestha, Sheela ^j, Hoganson, George, Dwyer, Lauren ^k, Hainline, Bryan ^l, Romie, Susan ^l, Hainline, Sarah ^l, Asamoah, Alexander ^m, Goodin, Kara ^m, Rajakaruna, Cecilia ^m, Jackson, Kelly ^m, Hamosh, Ada ⁿ, Vernon, Hilary ⁿ, Smith, Nancy ⁿ, Ahmad, Ayesha ^o, Lipinski, Sue ^o, Feldman, Gerald ^p, Berry, Susan ^q, Elsbecker, Sara ^q, Bentler, Kristi ^r, Font-Montgomery, Esperanza ^s, Peck, Dawn ^s, Pena, Loren D.M. ^t, Koeberl, Dwight D. ^t, Jiang, Yong-hui ^t, Kishnani, Priya S. ^t, Rizzo, William ^u, Dawson, Machelle ^u, Ambrose, Nancy ^u, Levy, Paul ^v, Kronn, David ^w, Fong, Chin-to ^x, D’Aco, Kristin ^x, Hart, Theresa ^x, Erbe, Richard ^y, Samons, Melissa ^y, Leslie, Nancy ^z, Powers, Racheal ^z, Bartholomew, Dennis ^aa, Goff, Melanie ^aa, vanCalcar, Sandy ^ab, Hansen, Joyanna ^ab, Arnold, Georgianne ^ac, Vockley, Jerry ^ac, Walsh-Vockley, Cate ^ad, Rhead, William ^ad, Dimmock, David ^ad, Engelking, Paula ^ad, Bird, Cassie ^ad, Swan, Ashley ^ad, Schwoerer, Jessica Scott ^ae, Henry, Sonja ^ae, Narumanchi, TaraChandra ^af, Hummel, Marybeth ^af, Wilkins, Jennie ^af, Davis-Keppen, Laura ^ag, Stein, Quinn ^ag, Loman, Rebecca ^ag, Cameron, Cynthia ^ah, Edick, Mathew J. ^ah, Hiner, Sally J. ^ah, Justice, Kaitlin ^ah, Zhai, Shaohui ^ah, Elsbecker, Sara A. ^c, Arnold, Georgianne L. ^d, Burton, Barbara K. ^e, Cameron, Cynthia A. ^b, Berry, Susan A. ^{c, ⁎, 1, 2}

Publikováno v: In Molecular Genetics and Metabolism September-October 2016 119(1-2):75-82

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Autor: Nagamani, Sandesh C.S. ^{a, ⁎}, Diaz, George A. ^b, Rhead, William ^c, Berry, Susan A. ^d, Le Mons, Cynthia ^e, Lichter-Konecki, Uta ^f, Bartley, James ^g, Feigenbaum, Annette ^h, Schulze, Andreas ⁱ, Longo, Nicola ^j, Berquist, William ^k, Gallagher, Renata ^l, Bartholomew, Dennis ^m, Harding, Cary O. ⁿ, Korson, Mark S. ^o, McCandless, Shawn E. ^p, Smith, Wendy ^q, Vockley, Jerry ^r, Kronn, David ^s, Zori, Robert ^t, Cederbaum, Stephen ^u, Lawrence Merritt, J., II ^v, Wong, Derek ^u, Coakley, Dion F. ^w, Scharschmidt, Bruce F. ^w, Dickinson, Klara ^x, Marino, Miguel ⁿ, Lee, Brendan H. ^a, Mokhtarani, Masoud ^w

Publikováno v: In Molecular Genetics and Metabolism September-October 2015 116(1-2):29-34

Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

Autor: Berry, Susan A. ^{a, ⁎}, Lichter-Konecki, Uta ^b, Diaz, George A. ^c, McCandless, Shawn E. ^d, Rhead, William ^e, Smith, Wendy ^f, LeMons, Cynthia ^g, Nagamani, Sandesh C.S. ^h, Coakley, Dion F. ⁱ, Mokhtarani, Masoud ⁱ, Scharschmidt, Bruce F. ⁱ, Lee, Brendan ^h

Publikováno v: In Molecular Genetics and Metabolism May 2014 112(1):17-24

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Autor: Van Calcar, Sandra C. ^{a, b, 1}, Baker, Mei W. ^{b, c, d, 1}, Williams, Phillip ^c, Jones, Susan A. ^c, Xiong, Blia ^a, Thao, Mai Choua ^a, Lee, Sheng ^a, Yang, Mai Khou ^a, Rice, Greg M. ^{a, b, c}, Rhead, William ^e, Vockley, Jerry ^f, Hoffman, Gary ^d, Durkin, Maureen S. ^{a, g, ⁎}

Publikováno v: In Molecular Genetics and Metabolism September-October 2013 110(1-2):111-115