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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative Shashi, Vandana; Schoch, Kelly; Spillmann, Rebecca; Cope, Heidi; Tan, Queenie K. -G.; Walley, Nicole; Pena, Loren; McConkie-Rosell, Allyn; Jiang, Yong-Hui; Stong, Nicholas; Need, Anna C.; Goldstein, David B.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasu-bramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Eckstein., David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Herzog, Matthew R.; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, G. Martin; Martinez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D. M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sweetser, David A.; Tan, Queenie K. -G.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison 分享 收藏
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease 基因诊断对先前未确诊疾病患者的影响 Splinter, K.; Adams, D. R.; Bacino, C. A.; Bellen, H. J.; Bernstein, J. A.; Cheatle-Jarvela, A. M.; Eng, C. M.; Esteves, C.; Gahl, W. A.; Hamid, R.; Jacob, H. J.; Kikani, B.; Koeller, D. M.; Kohane, I. S.; Lee, B. H.; Loscalzo, J.; Luo, X.; McCray, A. T.; Metz, T. O.; Mulvihill, J. J.; Nelson, S. F.; Palmer, C. G. S.; Phillips, J. A., III; Pick, L.; Postlethwait, J. H.; Reuter, C.; Shashi, V.; Sweetser, D. A.; Tifft, C. J.; Walley, N. M.; Wangler, M. F.; Westerfield, M.; Wheeler, M. T.; Wise, A. L.; Worthey, E. A.; Yamamoto, S.; Ashley, E. A. 分享 收藏
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Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I Pasquetti, Mayara Vendramin; Meier, Leticia; Loureiro, Samanta; Ganzella, Marcelo; Junges, Bernardo; Caus, Leticia Barbieri; Amaral, Alexandre Umpierrez; Koeller, David M.; Goodman, Stephen; Woontner, Michael; Gomes de Souza, Diogo Onofre; Wajner, Moacir; Calcagnotto, Maria Elisa 分享 收藏
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study 口服药物伴侣米加司他与酶替代疗法在法布里病中的比较: 随机III期吸引研究的18个月结果 Hughes, Derralynn A.; Nicholls, Kathleen; Shankar, Suma P.; Sunder-Plassmann, Gere; Koeller, David; Nedd, Khan; Vockley, Gerard; Hamazaki, Takashi; Lachmann, Robin; Ohashi, Toya; Olivotto, Iacopo; Sakai, Norio; Deegan, Patrick; Dimmock, David; Eyskens, Francois; Germain, Dominique P.; Goker-Alpan, Ozlem; Hachulla, Eric; Jovanovic, Ana; Lourenco, Charles M.; Narita, Ichiei; Thomas, Mark; Wilcox, William R.; Bichet, Daniel G.; Schiffmann, Raphael; Ludington, Elizabeth; Viereck, Christopher; Kirk, John; Yu, Julie; Johnson, Franklin; Boudes, Pol; Benjamin, Elfrida R.; Lockhart, David J.; Barlow, Carrolee; Skuban, Nina; Castelli, Jeffrey P.; Barth, Jay; Feldt-Rasmussen, Ulla 分享 收藏
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LmABCB3, an atypical mitochondrial ABC transporter essential for Leishmania major virulence, acts in heme and cytosolic iron/sulfur clusters biogenesis Martinez-Garcia, Marta; Campos-Salinas, Jenny; Cabello-Donayre, Maria; Pineda-Molina, Estela; Galvez, Francisco J.; Orrego, Lina M.; Sanchez-Canete, Maria P.; Malagarie-Cazenave, Sophie; Koeller, David M.; Perez-Victoria, Jose M. 分享 收藏
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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide Stockler-Ipsiroglu, Sylvia; Apatean, Delia; Battini, Roberta; DeBrosse, Suzanne; Dessoffy, Kimberley; Edvardson, Simon; Eichler, Florian; Johnston, Katherine; Koeller, David M.; Nouioua, Sonia; Tazir, Meriem; Verma, Ashok; Dowling, Monica D.; Wierenga, Klaas J.; Wierenga, Andrea M.; Zhang, Victor; Wong, Lee-Jun C. 分享 收藏
Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: A role for oxidative stress in GA I neuropathology Seminotti, Bianca h; Ribeiro, Rafael Teixeira; Amaral, Alexandre Umpierrez; da Rosa, Mateus Struecker; Pereira, Carolina Coffi; Leipnitz, Guilhian; Koeller, David M.; Goodman, Stephen; Woontner, Michael; Wajner, Moacir 分享 收藏
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Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation Seminotti, Bianca; Amaral, Alexandre Umpierrez; da Rosa, Mateus Struecker; Fernandes, Carolina Goncalves; Leipnitz, Guilhian; Olivera-Bravo, Silvia; Barbeito, Luis; Ribeiro, Cesar Augusto J.; Gomes de Souza, Diogo Onofre; Woontner, Michael; Goodman, Stephen I.; Koeller, David M.; Wajner, Moacir 分享 收藏
Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: A possible mechanism for brain injury in glutaric aciduria type I Amaral, Alexandre Umpierrez; Seminotti, Bianca; Cecatto, Cristiane; Fernandes, Carolina Goncalves; Brandt Busanello, Estela Natacha; Zanatta, Angela; Kist, Luiza Wilges; Bogo, Mauricio Reis; Gomes de Souza, Diogo Onofre; Woontner, Michael; Goodman, Stephen; Koeller, David M.; Wajner, Moacir 分享 收藏
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience Koelker, Stefan; Boy, S. P. Nikolas; Heringer, Jana; Mueller, Edith; Maier, Esther M.; Ensenauer, Regina; Muehlhausen, Chris; Schlune, Andrea; Greenberg, Cheryl R.; Koeller, David M.; Hoffmann, Georg F.; Haege, Gisela; Burgard, Peter 分享 收藏
Marked reduction of Na+, K+-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice Amaral, Alexandre Umpierrez; Cecatto, Cristiane; Seminotti, Bianca; Zanatta, Angela; Fernandes, Carolina Goncalves; Brandt Busanello, Estela Natacha; Braga, Luisa Macedo; Joao Ribeiro, Cesar Augusto; Gomes de Souza, Diogo Onofre; Woontner, Michael; Koeller, David M.; Goodman, Stephen; Wajner, Moacir 分享 收藏
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