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Iron Deficiency and Sleep/Wake Behaviors: A Scoping Review of Clinical Practice Guidelines-How to Overcome the Current Conundrum? McWilliams, Scout; Hill, Olivia; Ipsiroglu, Osman S.; Clemens, Stefan; Weber, Alexander Mark; Chen, Michael; Connor, James; Felt, Barbara T.; Manconi, Mauro; Mattman, Andre; Silvestri, Rosalia; Simakajornboon, Narong; Smith, Susan M.; Stockler, Sylvia 分享 收藏
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada Regier, Dean A.; Loewen, Rosalie; Chan, Brandon; Ehman, Morgan; Pollard, Samantha; Friedman, Jan M.; Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara; Race, Simone; Elliott, Alison M.; Dragojlovic, Nick; Lynd, Larry D.; Weymann, Deirdre 分享 收藏
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy Coughlin, Curtis A.; Tseng, Laura A.; Bok, Levinus; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L. K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C. H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; van Karnebeek, Clara 分享 收藏
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Toward the diagnosis of rare childhood genetic diseases: what do parents value most? (Apr, 10.1038/s41431-021-00925-7, 2021) Pollard, Samantha; Weymann, Deirdre; Dunne, Jessica; Mayanloo, Fatemeh; Buckell, John; Buchanan, James; Wordsworth, Sarah; Friedman, Jan M.; Stockler-Ipsiroglu, Sylvia; Dragojlovic, Nick; Elliott, Alison M.; Harrison, Mark; Lynd, Larry D.; Regier, Dean A. 分享 收藏
Toward the diagnosis of rare childhood genetic diseases: what do parents value most? Pollard, Samantha; Weymann, Deirdre; Dunne, Jessica; Mayanloo, Fatemeh; Buckell, John; Buchanan, James; Wordsworth, Sarah; Friedman, Jan M.; Stockler-Ipsiroglu, Sylvia; Dragojlovic, Nick; Elliott, Alison E.; Harrison, Mark; Lynd, Larry D.; Regier, Dean A. 分享 收藏
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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network Tingley, Kylie; Lamoureux, Monica; Pugliese, Michael; Geraghty, Michael T.; Kronick, Jonathan B.; Potter, Beth K.; Coyle, Doug; Wilson, Kumanan; Kowalski, Michael; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Chan, Alicia K. J.; Dyack, Sarah; Feigenbaum, Annette; Giezen, Alette; Goobie, Sharan; Greenberg, Cheryl R.; Ghai, Shailly Jain; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mohan, Connie; Mhanni, Aizeddin; Mitchell, Grant; Mitchell, John J.; Nagy, Laura; Napier, Melanie; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vallance, Hilary; Vandersteen, Anthony; Walia, Jagdeep; Wilson, Ashley; Wilson, Brenda J.; Yu, Andrea C.; Yuskiv, Nataliya; Chakraborty, Pranesh 分享 收藏
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders Fischer-Zirnsak, Bjoern; Segebrecht, Lara; Schubach, Max; Charles, Perrine; Alderman, Emily; Brown, Kathleen; Cadieux-Dion, Maxime; Cartwright, Tracy; Chen, Yanmin; Costin, Carrie; Fehr, Sarah; Fitzgerald, Keely M.; Fleming, Emily; Foss, Kimberly; Thoa Ha; Hildebrand, Gabriele; Horn, Denise; Liu, Shuxi; Marco, Elysa J.; McDonald, Marie; McWalter, Kirsty; Race, Simone; Rush, Eric T.; Si, Yue; Saunders, Carol; Slavotinek, Anne; Stockler-Ipsiroglu, Sylvia; Telegrafi, Aida; Thiffault, Isabelle; Torti, Erin; Tsai, Anne Chun-hui; Wang, Xin; Zafar, Muhammad; Keren, Boris; Kornak, Uwe; Boerkoel, Cornelius F.; Mirzaa, Ghayda; Ehmke, Nadja 分享 收藏
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder Cuvertino, Sara; Stuart, Helen M.; Chandler, Kate E.; Roberts, Neil A.; Armstrong, Ruth; Bernardini, Laura; Bhaskar, Sanjeev; Callewaert, Bert; Clayton-Smith, Jill; Hernando Davalillo, Cristina; Deshpande, Charu; Devriendt, Koenraad; Digilio, Maria C.; Dixit, Abhijit; Edwards, Matthew; Friedman, Jan M.; Gonzalez-Meneses, Antonio; Joss, Shelagh; Kerr, Bronwyn; Lampe, Anne Katrin; Langlois, Sylvie; Lennon, Rachel; Loget, Philippe; Ma, David Y. T.; McGowan, Ruth; Des Medt, Maryse; O'Sullivan, James; Odent, Sylvie; Parker, Michael J.; Pebrel-Richard, Celine; Petit, Florence; Stark, Zornitza; Stockler-Ipsiroglu, Sylvia; Tinschert, Sigrid; Vasudevan, Pradeep; Villa, Olaya; White, Susan M.; Zahir, Farah R.; Woolf, Adrian S.; Banka, Siddharth 分享 收藏
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Exome Sequencing and the Management of Neurometabolic Disorders Tarailo-Graovac, M.; Shyr, C.; Ross, C. J.; Horvath, G. A.; Salvarinova, R.; Ye, X. C.; Zhang, L-H; Bhavsar, A. P.; Lee, J. J. Y.; Droegemoeller, B. I.; Abdelsayed, M.; Alfadhel, M.; Armstrong, L.; Baumgartner, M. R.; Burda, P.; Connolly, M. B.; Cameron, J.; Demos, M.; Dewan, T.; Dionne, J.; Evans, A. M.; Friedman, J. M.; Garber, I.; Lewis, S.; Ling, J.; Mandal, R.; Mattman, A.; McKinnon, M.; Michoulas, A.; Metzger, D.; Ogunbayo, O. A.; Rakic, B.; Rozmus, J.; Ruben, P.; Sayson, B.; Santra, S.; Schultz, K. R.; Selby, K.; Shekel, P.; Sirrs, S.; Skrypnyk, C.; Superti-Furga, A.; Turvey, S. E.; Van Allen, M. I.; Wishart, D.; Wu, J.; Wu, J.; Zafeiriou, D.; Kluijtmans, L.; Wevers, R. A.; Eydoux, P.; Lehman, A. M.; Vallance, H.; Stockler-Ipsiroglu, S.; Sinclair, G.; Wasserman, W. W.; van Karnebeek, C. D. 分享 收藏
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum van Karnebeek, Clara D. M.; Tiebout, Sylvia A.; Niermeijer, Jikkemien; Poll-The, Bwee Tien; Ghani, Aisha; Coughlin, Curtis R., II; Van Hove, Johan L. K.; Richter, Jost Wigand; Christen, Hans Juergen; Gallagher, Renata; Hartmann, Hans; Stoclder-Ipsiroglu, Sylvia 分享 收藏
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target? Horvath, Gabriella A.; Demos, Michelle; Shyr, Casper; Matthews, Allison; Zhang, Linhua; Race, Simone; Stockler-Ipsiroglu, Sylvia; Van Allen, Margot I.; Mancarci, Ogan; Toker, Lilah; Pavlidis, Paul; Ross, Colin J.; Wasserman, Wyeth W.; Trump, Natalie; Heales, Simon; Pope, Simon; Cross, J. Helen; van Karnebeek, Clara D. M. 分享 收藏
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
Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements Jaggumantri, Sravan; Dunbar, Mary; Edgar, Vanessa; Mignone, Cristina; Newlove, Theresa; Elango, Rajavel; Collet, Jean Paul; Sargent, Michael; Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D. M. 分享 收藏
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