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Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening Reischl-Hajiabadi, Anna T.; Guilder, Laura; Inbar-Feigenberg, Michal; Aljouda, Liali; Atkinson, Celia; Cruz, Vivian; Martin, Nicole; Vincent, Ajoy; Mamak, Eva; Marcadier, Janet; Schulze, Andreas Share Save
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension Muenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Gutierrez-solana, Luis Gonzalez; Ruiz-garcia, Matilde; Jones, Simon A.; Guffon, Nathalie; Inbar-feigenberg, Michal; Bratkovic, Drago; Rust, Stewart; Hale, Michael; Wu, Yuna; Yee, Karen S.; Whiteman, David A. H.; Alexanderian, David Share Save
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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement Howie, Alison H.; Tingley, Kylie; Inbar-Feigenberg, Michal; Mitchell, John J.; Angel, Kim; Gentle, Jenifer; Smith, Maureen; Offringa, Martin; Butcher, Nancy J.; Campeau, Philippe M.; Chakraborty, Pranesh; Chan, Alicia; Fergusson, Dean; Mamak, Eva; McClelland, Peyton; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Moazin, Zeinab; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Skidmore, Becky; Stockler, Sylvia; Thavorn, Kednapa; Wyatt, Alexandra; Potter, Beth K. Share Save
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Co-developing longitudinal patient registries for phenylketonuria and mucopolysaccharidoses in Canada Adams, John; Angel, Kim; Mitchell, John J.; Chakraborty, Pranesh; Potter, Beth K.; Inbar-Feigenberg, Michal; Stockler, Sylvia; Lamoureux, Monica; Howie, Alison; Pace, Alex; Butcher, Nancy J.; Rockman-Greenberg, Cheryl; Hayeems, Robin; Laberge, Anne-Marie; Lacaze-Masmonteil, Thierry; Round, Jeff; Offringa, Martin; Oksoui, Maryam; Schulze, Andreas; Speechley, Kathy; Thavorn, Kednapa; Trakadis, Yannis; Wilson, Kumanan Share Save
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Family-centred care interventions for children with chronic conditions: A scoping review Chow, Andrea J.; Saad, Ammar; Al-Baldawi, Zobaida; Iverson, Ryan; Skidmore, Becky; Jordan, Isabel; Pallone, Nicole; Smith, Maureen; Chakraborty, Pranesh; Brehaut, Jamie; Cohen, Eyal; Dyack, Sarah; Gillis, Jane; Goobie, Sharan; Greenberg, Cheryl R.; Hayeems, Robin; Hutton, Brian; Inbar-Feigenberg, Michal; Jain-Ghai, Shailly; Khangura, Sara; Mackenzie, Jennifer J.; Mitchell, John J.; Moazin, Zeinab; Nicholls, Stuart G.; Pender, Amy; Prasad, Chitra; Schulze, Andreas; Siriwardena, Komudi; Sparkes, Rebecca N.; Speechley, Kathy N.; Stockler, Sylvia; Taljaard, Monica; Teitelbaum, Mari; Trakadis, Yannis; Van Karnebeek, Clara; Walia, Jagdeep S.; Wilson, Kumanan; Potter, Beth K. Share Save
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin Share Save
A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611-201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD) Adang, Laura A.; Malanga, C. J.; Burton, Barbara K.; Giugliani, Roberto; Groeschel, Samuel; Inbar-Feigenberg, Michal; Sevin, Caroline; Riera, Mireia Del Toro; Yin, Shaoming; Rathmann, Suchitrita; Whiteman, David A. H.; Vanderver, Adeline Share Save
Co-developing The Canadian MPS Registry: A longitudinal rare disease patient registry Mitchell, John J.; Inbar-Feigenberg, Michal; Angel, Kim; Chakraborty, Pranesh; Lamoureux, Monica; Adams, John; Potter, Beth K.; Stockler-Ipsirolgu, Sylvia; Howie, Alison H.; Pace, Alex; Butcher, Nancy J.; Greenberg, Cheryl; Hayeems, Robin; Laberge, Anne-Marie; Round, Jeff; Offringa, Martin; Oskoui, Maryam; Ruth, Chelsea; Schulze, Andreas; Speechley, Kathy; Thavorn, Kednapa; Trakadis, Yannis; Wilson, Kumanan; Lacaze, Thierry Share Save
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants Allen, James P.; Garber, Kathryn B.; Perszyk, Riley; Khayat, Cara T.; Kell, Steven A.; Kaneko, Maki; Quindipan, Catherine; Saitta, Sulagna; Ladda, Roger L.; Hewson, Stacy; Inbar-Feigenberg, Michal; Prasad, Chitra; Prasad, Asuri N.; Olewiler, Leah; Mu, Weiyu; Rosenthal, Liana S.; Scala, Marcello; Striano, Pasquale; Zara, Federico; McCullock, Tyler W.; Jauss, Robin-Tobias; Lemke, Johannes R.; MacLean, David M.; Zhu, Cheng; Yuan, Hongjie; Myers, Scott J.; Traynelis, Stephen F. Share Save
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study (vol 137, pg 127, 2022) Muenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Gutierrez-Solana, Luis Gonzalez; Ruiz-Garcia, Matilde; Jones, Simon A.; Guffon, Nathalie; Inbar-Feigenberg, Michal; Bratkovic, Drago; Hale, Michael; Wu, Yuna; Yee, Karen S.; Whiteman, David A. H.; Alexanderian, David Share Save
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II (vol 137, pg 22, 2022) Muenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Gonzalez-Solana, Luis; Ruiz-Garcia, Matilde; Jones, Simon A.; Guffon, Nathalie; Inbar-Feigenberg, Michal; Bratkovic, Drago; Hale, Michael; Wu, Yuna; Yee, Karen S.; Whiteman, David A. H.; Alexanderian, David Share Save
Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research Vanderhout, Shelley; Potter, Beth K.; Smith, Maureen; Butcher, Nancy J.; Vaters, Jordan; Chakraborty, Pranesh; Adams, John; Inbar-Feigenberg, Michal; Offringa, Martin; Speechley, Kathy; Trakadis, Yannis; Binik, Ariella Share Save
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) Carter, Melissa T.; Srour, Myriam; Au, Ping-Yee Billie; Buhas, Daniela; Dyack, Sarah; Eaton, Alison; Inbar-Feigenberg, Michal; Howley, Heather; Kawamura, Anne; Lewis, Suzanne M. E.; McCready, Elizabeth; Nelson, Tanya N.; Vallance, Hilary Share Save
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