未登录 Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia Sinasac, DS; Moriyama, M; Jalil, MA; Begum, L; Li, MX; Iijima, M; Horiuchi, M; Robinson, BH; Kobayashi, K; Saheki, T; Tsui, LC 分享 收藏
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Synthesis, physiochemical characterization, and biocompatibility of a chitosan/dextran-based hydrogel for postsurgical adhesion prevention Cabral, Jaydee D.; Roxburgh, Marina; Shi, Zheng; Liu, Liqi; McConnell, Michelle; Williams, Gail; Evans, Natasha; Hanton, Lyall R.; Simpson, Jim; Moratti, Stephen C.; Robinson, Brian H.; Wormald, Peter J.; Robinson, Simon 分享 收藏
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 Baker, Peter R., II; Friederich, Marisa W.; Swanson, Michael A.; Shaikh, Tamim; Bhattacharya, Kaustuv; Scharer, Gunter H.; Aicher, Joseph; Creadon-Swindell, Geralyn; Geiger, Elizabeth; MacLean, Kenneth N.; Lee, Wang-Tso; Deshpande, Charu; Freckmann, Mary-Louise; Shih, Ling-Yu; Wasserstein, Melissa; Rasmussen, Malene B.; Lund, Allan M.; Procopis, Peter; Cameron, Jessie M.; Robinson, Brian H.; Brown, Garry K.; Brown, Ruth M.; Compton, Alison G.; Dieckmann, Carol L.; Collard, Renata; Coughlin, Curtis R., II; Spector, Elaine; Wempe, Michael F.; Van Hove, Johan L. K. 分享 收藏
Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q10 in Children with Primary Mitochondrial Diseases (vol 12, pg 623, 2012) Stacpoole, Peter W.; deGrauw, Ton J.; Feigenbaum, Annette S.; Hoppel, Charles; Kerr, Douglas S.; McCandless, Shawn E.; Miles, Michael V.; Robinson, Brian H.; Tang, Peter H. 分享 收藏
Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations 线粒体柠檬酸合酶晶体: 由酰基甘油激酶 (AGK) 突变引起的Sengers综合征的新发现 Siriwardena, Komudi; MacKay, Nevena; Levandovskiy, Valeriy; Blaser, Susan; Raiman, Julian; Kantor, Paul F.; Ackerley, Cameron; Robinson, Brian H.; Schulze, Andreas; Cameron, Jessie M. 分享 收藏
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Identification of drug candidates which increase cytochrome c oxidase activity in deficient patient fibroblasts Maj, Mary; Sriskandarajah, Niroshan; Hung, Vinci; Browne, Ikennah; Shah, Bhavank; Weadge, Anita; Jamieson, Nicola L.; Tropak, Michael; Cameron, Jessie M.; Addis, Jane B.; Robinson, Brian H. 分享 收藏
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Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts Cameron, Jessie M.; Levandovskiy, Valeriy; MacKay, Nevena; Utgikar, Rucha; Ackerley, Cameron; Chiasson, David; Halliday, William; Raiman, Julian; Robinson, Brian H. 分享 收藏
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Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations Werner, Klaus G. E.; Morel, Chantal F.; Kirton, Adam; Benseler, Susanne M.; Shoffner, John M.; Addis, Jane B. L.; Robinson, Brian H.; Burrowes, Delilah M.; Blaser, Susan I.; Epstein, Leon G.; Feigenbaum, Annette S. J. 分享 收藏
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