Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Iverson, Ryan; Taljaard, Monica; Geraghty, Michael T; Pugliese, Michael; Tingley, Kylie; Coyle, Doug; Kronick, Jonathan B; Wilson, Kumanan; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Butcher, Nancy J; Chan, Alicia K J; Dyack, Sarah; Goobie, Sharan; Greenberg, Cheryl R; Jain-Ghai, Shailly; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Mitchell, John J; Nagy, Laura; Offringa, Martin; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Tapscott, Kendra; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vandersteen, Anthony; Walia, Jagdeep S; Wilson, Brenda J; Yu, Andrea C; Potter, Beth K; Chakraborty, Pranesh.

BMC Pediatr ; 24(1): 37, 2024 Jan 13.

Artigo em Inglês | MEDLINE | ID: mdl-38216926

2.

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

Paik, Karen; Lines, Matthew A; Chakraborty, Pranesh; Khangura, Sara D; Latocki, Maureen; Al-Hertani, Walla; Brunel-Guitton, Catherine; Khan, Aneal; Penny, Blaine; Rockman-Greenberg, Cheryl; Rupar, C Anthony; Sondheimer, Neal; Tarnopolsky, Mark; Tingley, Kylie; Coyle, Doug; Dyack, Sarah; Feigenbaum, Annette; Geraghty, Michael T; Gillis, Jane; van Karnebeek, Clara D M; Kronick, Jonathan B; Little, Julian; Potter, Murray; Siriwardena, Komudi; Sparkes, Rebecca; Turner, Lesley A; Wilson, Kumanan; Buhas, Daniela; Potter, Beth K.

Can J Neurol Sci ; 46(6): 717-726, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31387656

3.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel, 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.

Genet Med ; 20(4): 435-443, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-28771251

4.

Organic Acidemias.

Guilder, Laura L; Kronick, Jonathan B.

Pediatr Rev ; 43(3): 123-134, 2022 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-35229111

5.

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

Khangura, Sara D; Tingley, Kylie; Chakraborty, Pranesh; Coyle, Doug; Kronick, Jonathan B; Laberge, Anne-Marie; Little, Julian; Miller, Fiona A; Mitchell, John J; Prasad, Chitra; Siddiq, Shabnaz; Siriwardena, Komudi; Sparkes, Rebecca; Speechley, Kathy N; Stockler, Sylvia; Trakadis, Yannis; Wilson, Brenda J; Wilson, Kumanan; Potter, Beth K.

J Inherit Metab Dis ; 39(1): 139-47, 2016 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-26209272

6.

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

Khangura, Sara D; Karaceper, Maria D; Trakadis, Yannis; Mitchell, John J; Chakraborty, Pranesh; Tingley, Kylie; Coyle, Doug; Grosse, Scott D; Kronick, Jonathan B; Laberge, Anne-Marie; Little, Julian; Prasad, Chitra; Sikora, Lindsey; Siriwardena, Komudi; Sparkes, Rebecca; Speechley, Kathy N; Stockler, Sylvia; Wilson, Brenda J; Wilson, Kumanan; Zayed, Reem; Potter, Beth K.

BMC Pediatr ; 15: 7, 2015 Feb 13.

Artigo em Inglês | MEDLINE | ID: mdl-25886474

7.

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Roscher, Anne; Patel, Jaina; Hewson, Stacy; Nagy, Laura; Feigenbaum, Annette; Kronick, Jonathan; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Mercimek-Mahmutoglu, Saadet.

Mol Genet Metab ; 113(3): 171-6, 2014 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25266922

8.

Excellence in clinical care is the most important thing, but not the only thing.

Kronick, Jonathan B.

Paediatr Child Health ; 24(1): 60-62, 2019 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-30792601

9.

Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.

Potter, 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.

Genet Med ; 15(6): 415-22, 2013 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-23222662

10.

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.

Potter, Beth K; Little, Julian; Chakraborty, Pranesh; Kronick, Jonathan B; Evans, Jessica; Frei, Julia; Sutherland, Sarah C; Wilson, Kumanan; Wilson, Brenda J.

J Inherit Metab Dis ; 35(1): 115-23, 2012 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21630065

11.

Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.

Prasad, Chitra; Speechley, Kathy N; Dyack, Sarah; Rupar, Charles A; Chakraborty, Pranesh; Kronick, Jonathan B.

Paediatr Child Health ; 17(4): 185-9, 2012 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23543005

12.

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Chow, 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.

Patient ; 15(2): 171-185, 2022 03.

Artigo em Inglês | MEDLINE | ID: mdl-34282509

13.

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Pugliese, Michael; Tingley, Kylie; Chow, Andrea; Pallone, Nicole; Smith, Maureen; Chakraborty, Pranesh; Geraghty, Michael T; Irwin, Julie K; Mitchell, John J; Stockler, Sylvia; Nicholls, Stuart G; Offringa, Martin; Rahman, Alvi; Tessier, Laure A; Butcher, Nancy J; Iverson, Ryan; Lamoureux, Monica; Clifford, Tammy J; Hutton, Brian; Paik, Karen; Tao, Jessica; Skidmore, Becky; Coyle, Doug; Duddy, Kathleen; Dyack, Sarah; Greenberg, Cheryl R; Jain Ghai, Shailly; Karp, Natalya; Korngut, Lawrence; Kronick, Jonathan; MacKenzie, Alex; MacKenzie, Jennifer; Maranda, Bruno; Potter, Murray; Prasad, Chitra; Schulze, Andreas; Sparkes, Rebecca; Taljaard, Monica; Trakadis, Yannis; Walia, Jagdeep; Potter, Beth K.

Pediatrics ; 148(2)2021 08.

Artigo em Inglês | MEDLINE | ID: mdl-34266901

14.

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder.

Wilson, Ashley; Cruz, Vivian; Kronick, Jonathan B.

JIMD Rep ; 55(1): 22-25, 2020 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-32905057

15.

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.

Orphanet J Rare Dis ; 15(1): 89, 2020 04 10.

Artigo em Inglês | MEDLINE | ID: mdl-32276663

16.

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.

Pugliese, Michael; Tingley, Kylie; Chow, Andrea; Pallone, Nicole; Smith, Maureen; Rahman, Alvi; Chakraborty, Pranesh; Geraghty, Michael T; Irwin, Julie; Tessier, Laure; Nicholls, Stuart G; Offringa, Martin; Butcher, Nancy J; Iverson, Ryan; Clifford, Tammy J; Stockler, Sylvia; Hutton, Brian; Paik, Karen; Tao, Jessica; Skidmore, Becky; Coyle, Doug; Duddy, Kathleen; Dyack, Sarah; Greenberg, Cheryl R; Ghai, Shailly Jain; Karp, Natalya; Korngut, Lawrence; Kronick, Jonathan; MacKenzie, Alex; MacKenzie, Jennifer; Maranda, Bruno; Mitchell, John J; Potter, Murray; Prasad, Chitra; Schulze, Andreas; Sparkes, Rebecca; Taljaard, Monica; Trakadis, Yannis; Walia, Jagdeep; Potter, Beth K.

Orphanet J Rare Dis ; 15(1): 12, 2020 01 14.

Artigo em Inglês | MEDLINE | ID: mdl-31937333

17.

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

Karaceper, Maria D; Khangura, Sara D; Wilson, Kumanan; Coyle, Doug; Brownell, Marni; Davies, Christine; Dodds, Linda; Feigenbaum, Annette; Fell, Deshayne B; Grosse, Scott D; Guttmann, Astrid; Hawken, Steven; Hayeems, Robin Z; Kronick, Jonathan B; Laberge, Anne-Marie; Little, Julian; Mhanni, Aizeddin; Mitchell, John J; Nakhla, Meranda; Potter, Murray; Prasad, Chitra; Rockman-Greenberg, Cheryl; Sparkes, Rebecca; Stockler, Sylvia; Ueda, Keiko; Vallance, Hilary; Wilson, Brenda J; Chakraborty, Pranesh; Potter, Beth K.

Orphanet J Rare Dis ; 14(1): 70, 2019 03 22.

Artigo em Inglês | MEDLINE | ID: mdl-30902101

18.

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.

Karaceper, Maria D; Chakraborty, Pranesh; Coyle, Doug; Wilson, Kumanan; Kronick, Jonathan B; Hawken, Steven; Davies, Christine; Brownell, Marni; Dodds, Linda; Feigenbaum, Annette; Fell, Deshayne B; Grosse, Scott D; Guttmann, Astrid; Laberge, Anne-Marie; Mhanni, Aizeddin; Miller, Fiona A; Mitchell, John J; Nakhla, Meranda; Prasad, Chitra; Rockman-Greenberg, Cheryl; Sparkes, Rebecca; Wilson, Brenda J; Potter, Beth K.

Orphanet J Rare Dis ; 11: 12, 2016 Feb 03.

Artigo em Inglês | MEDLINE | ID: mdl-26841949

19.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq, 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.

Orphanet J Rare Dis ; 11(1): 168, 2016 12 07.

Artigo em Inglês | MEDLINE | ID: mdl-27927250

20.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos, Dimitri J; Merico, Daniele; Jobling, Rebekah; Bowdin, Sarah; Monfared, Nasim; Thiruvahindrapuram, Bhooma; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Yuen, Ryan K C; Szego, Michael J; Hayeems, Robin Z; Shaul, Randi Zlotnik; Brudno, Michael; Girdea, Marta; Frey, Brendan; Alipanahi, Babak; Ahmed, Sohnee; Babul-Hirji, Riyana; Porras, Ramses Badilla; Carter, Melissa T; Chad, Lauren; Chaudhry, Ayeshah; Chitayat, David; Doust, Soghra Jougheh; Cytrynbaum, Cheryl; Dupuis, Lucie; Ejaz, Resham; Fishman, Leona; Guerin, Andrea; Hashemi, Bita; Helal, Mayada; Hewson, Stacy; Inbar-Feigenberg, Michal; Kannu, Peter; Karp, Natalya; Kim, Raymond; Kronick, Jonathan; Liston, Eriskay; MacDonald, Heather; Mercimek-Mahmutoglu, Saadet; Mendoza-Londono, Roberto; Nasr, Enas; Nimmo, Graeme; Parkinson, Nicole; Quercia, Nada; Raiman, Julian; Roifman, Maian; Schulze, Andreas; Shugar, Andrea; Shuman, Cheryl.

NPJ Genom Med ; 12016 Jan 13.

Artigo em Inglês | MEDLINE | ID: mdl-28567303

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