Not logged inFamily-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. .png)
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SaveShare Save Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional SurveyChow, Andrea J.; Pugliese, Michael; Tessier, Laure A.; Chakraborty, Pranesh; Iverson, Ryan; Coyle, Doug; Kronick, Jonathan B.; Wilson, Kumanan; Hayeems, Robin; Al-Hertani, Walla; Inbar-Feigenberg, Michal; Jain-Ghai, Shailly; Laberge, Anne-Marie; Little, Julian; Mitchell, John J.; Prasad, Chitra; Siriwardena, Komudi; Sparkes, Rebecca; Speechley, Kathy N.; Stockler, Sylvia; Trakadis, Yannis; Walia, Jagdeep S.; Wilson, Brenda J.; Potter, Beth K. Share Save 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 NetworkTingley, 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 Share Save ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegenerationHirose, Takuo; Cabrera-Socorro, Alfredo; Chitayat, David; Lemonnier, Thomas; Feraud, Olivier; Cifuentes-Diaz, Carmen; Gervasi, Nicolas; Mombereau, Cedric; Ghosh, Tanay; Stoica, Loredana; Al Bacha, Jeanne d'Arc; Yamada, Hiroshi; Lauterbach, Marcel A.; Guillon, Marc; Kaneko, Kiriko; Norris, Joy W.; Siriwardena, Komudi; Blaser, Susan; Teillon, Jeremie; Mendoza-Londono, Roberto; Russeau, Marion; Hadoux, Julien; Ito, Sadayoshi; Corvol, Pierre; Matheus, Maria G.; Holden, Kenton R.; Takei, Kohji; Emiliani, Valentina; Bennaceur-Griscelli, Annelise; Schwartz, Charles E.; Nguyen, Genevieve; Groszer, Matthias Share Save Share Save Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testLionel, Anath C.; Costain, Gregory; Monfared, Nasim; Walker, Susan; Reuter, Miriam S.; Hosseini, S. Mohsen; Thiruvahindrapuram, Bhooma; Merico, Daniele; Jobling, Rebekah; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Sung, Wilson W. L.; Wang, Zhuozhi; Bikangaga, Peter; Boelman, Cyrus; Carter, Melissa T.; Cordeiro, Dawn; Cytrynbaum, Cheryl; Dell, Sharon D.; Dhir, Priya; Dowling, James J.; Heon, Elise; Hewson, Stacy; Hiraki, Linda; Inbar-Feigenberg, Michal; Klatt, Regan; Kronick, Jonathan; Laxer, Ronald M.; Licht, Christoph; MacDonald, Heather; Mercimek-Andrews, Saadet; Mendoza-Londono, Roberto; Piscione, Tino; Schneider, Rayfel; Schulze, Andreas; Silverman, Earl; Siriwardena, Komudi; Snead, O. Carter; Sondheimer, Neal; Sutherland, Joanne; Vincent, Ajoy; Wasserman, Jonathan D.; Weksberg, Rosanna; Shuman, Cheryl; Carew, Chris; Szego, Michael J.; Hayeems, Robin Z.; Basran, Raveen; Stavropoulos, Dimitri J.; Ray, Peter N.; Bowdin, Sarah; Meyn, M. Stephen; Cohn, Ronald D.; Scherer, Stephen W.; Marshall, Christian R. Share Save Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type IIAl Teneiji, Amal; Bruun, Theodora Uj.; Sidky, Sarah; Cordeiro, Dawn; Cohn, Ronald D.; Mendoza-Londono, Roberto; Moharir, Mahendranath; Raiman, Julian; Siriwardena, Komudi; Kyriakopoulou, Lianna; Mercimek-Mahmutoglu, Saadet Share Save Experiences of caregivers of children with inherited metabolic diseases: a qualitative studySiddiq, Shabnaz; Wilson, Brenda J.; Graham, Ian D.; Lamoureux, Monica; Khangura, Sara D.; Tingley, Kylie; Tessier, Laure; Chakraborty, Pranesh; Coyle, Doug; Dyack, Sarah; Gillis, Jane; Greenberg, Cheryl; Hayeems, Robin Z.; Jain-Ghai, Shailly; Kronick, Jonathan B.; Laberge, Anne-Marie; Little, Julian; Mitchell, John J.; Prasad, Chitra; Siriwardena, Komudi; Sparkes, Rebecca; Speechley, Kathy N.; Stockler, Sylvia; Trakadis, Yannis; Wafa, Sarah; Walia, Jagdeep; Wilson, Kumanan; Yuskiv, Nataliya; Potter, Beth K. Share Save Share Save Share Save Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacyLongo, Nicola; Siriwardena, Komudi; Feigenbaum, Annette; Dimmock, David; Burton, Barbara K.; Stockler, Sylvia; Waisbren, Susan; Lang, William; Jurecki, Elaina; Zhang, Charlie; Prasad, Suyash Share Save Diagnostic yield of genetic testing in epileptic encephalopathy in childhoodMercimek-Mahmutoglu, Saadet; Patel, Jaina; Cordeiro, Dawn; Hewson, Stacy; Callen, David; Donner, Elizabeth J.; Hahn, Cecil D.; Kannu, Peter; Kobayashi, Jeff; Minassian, Berge A.; Moharir, Mahendranath; Siriwardena, Komudi; Weiss, Shelly K.; Weksberg, Rosanna; Snead, O. Carter Share Save A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuriaBurton, B.; Grant, M.; Feigenbaum, A.; Singh, R.; Hendren, R.; Siriwardena, K.; Phillips, J., III; Sanchez-Valle, A.; Waisbren, S.; Gillis, J.; Prasad, S.; Merilainen, M.; Lang, W.; Zhang, C.; Yu, S.; Stahl, S. Share Save Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort studyMercimek-Mahmutoglu, Saadet; Sidky, Sarah; Hyland, Keith; Patel, Jaina; Donner, Elizabeth J.; Logan, William; Mendoza-Londono, Roberto; Moharir, Mahendranath; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Yoon, Grace; Kyriakopoulou, Lianna Share Save The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in CanadaRoscher, Anne; Patel, Jaina; Hewson, Stacy; Nagy, Laura; Feienbaum, Annette; Kronick, Jonathan; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Mercimek-Mahmutoglu, Saadet Share Save Share Save Achieving the triple aim for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence frameworkPotter, Beth K.; Chakraborty, Pranesh; Kronick, Jonathan B.; Wilson, Kumanan; Coyle, Doug; Feigenbaum, Annette; Geraghty, Michael T.; Karaceper, Maria D.; Little, Julian; Mhanni, Aizeddin; Mitchell, John J.; Siriwardena, Komudi; Wilson, Brenda J.; Syrowatka, Ania Share Save Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutationsSiriwardena, Komudi; MacKay, Nevena; Levandovskiy, Valeriy; Blaser, Susan; Raiman, Julian; Kantor, Paul F.; Ackerley, Cameron; Robinson, Brian H.; Schulze, Andreas; Cameron, Jessie M. 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