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

Autor: Thomas, Janet, Dodge, Melinda, Singh, Rani, Lakshman, Sangeetha, Coakley, Katie, Stembridge, Adrya, Russi, Alvaro Serrano, Phillips, Emily, Burton, Barbara, Edano, Clare, Shrestha, Sheela, Hoganson, George, Dwyer, Lauren, Hainline, Bryan, Romie, Susan, Hainline, Sarah, Asamoah, Alexander, Goodin, Kara, Rajakaruna, Cecilia, Jackson, Kelly, Hamosh, Ada, Vernon, Hilary, Smith, Nancy, Ahmad, Ayesha, Lipinski, Sue, Feldman, Gerald, Berry, Susan, Elsbecker, Sara, Bentler, Kristi, Font-Montgomery, Esperanza, Peck, Dawn, Pena, Loren D.M., Koeberl, Dwight D., Jiang, Yong-hui, Kishnani, Priya S., Rizzo, William, Dawson, Machelle, Ambrose, Nancy, Levy, Paul, Kronn, David, Fong, Chin-to, D’Aco, Kristin, Hart, Theresa, Erbe, Richard, Samons, Melissa, Leslie, Nancy, Powers, Racheal, Bartholomew, Dennis, Goff, Melanie, vanCalcar, Sandy, Hansen, Joyanna, Arnold, Georgianne, Vockley, Jerry, Walsh-Vockley, Cate, Rhead, William, Dimmock, David, Engelking, Paula, Bird, Cassie, Swan, Ashley, Schwoerer, Jessica Scott, Henry, Sonja, Narumanchi, TaraChandra, Hummel, Marybeth, Wilkins, Jennie, Davis-Keppen, Laura, Stein, Quinn, Loman, Rebecca, Cameron, Cynthia, Edick, Mathew J., Hiner, Sally J., Justice, Kaitlin, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Cameron, Cynthia A., Berry, Susan A.

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

Mitochondrial tRNA mutation as a cause of end-stage renal disease in childhood.

Autor: D'Aco, Kristin¹, Manno, Megan², Clarke, Colleen², Ganesh, Jaya, Meyers, Kevin, Sondheimer, Neal sondheimer@email.chop.edu

Publikováno v: Pediatric Nephrology. Mar2013, Vol. 28 Issue 3, p515-519. 5p. 1 Graph.

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

Autor: Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D׳Aco, Kristin

Publikováno v: In Data in Brief June 2015 3:34-39

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