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Page 1
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P. Iverson R, et al. Among authors: mitchell jj. BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. BMC Pediatr. 2024. PMID: 38216926 Free PMC article.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Khangura SD, et al. Among authors: mitchell jj. BMC Pediatr. 2015 Feb 13;15:7. doi: 10.1186/s12887-015-0323-x. BMC Pediatr. 2015. PMID: 25886474 Free PMC article. Review.
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: mitchell jj. Orphanet J Rare Dis. 2020 Jan 14;15(1):12. doi: 10.1186/s13023-019-1276-1. Orphanet J Rare Dis. 2020. PMID: 31937333 Free PMC article. Review.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: mitchell jj. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.
Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AK, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M, Gillis J, Rockman-Greenberg C, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell JJ, Mitchell G, Laberge AM, Potter M, Prasad C, Siriwardena K, Speechley KN, Stockler S, Trakadis Y, Turner L, Van Karnebeek C, Wilson K, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Lamoureux MF, et al. Among authors: mitchell jj, mitchell g. JIMD Rep. 2015;21:15-22. doi: 10.1007/8904_2014_347. Epub 2015 Feb 26. JIMD Rep. 2015. PMID: 25716610 Free PMC article.
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper MD, Chakraborty P, Coyle D, Wilson K, Kronick JB, Hawken S, Davies C, Brownell M, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Laberge AM, Mhanni A, Miller FA, Mitchell JJ, Nakhla M, Prasad C, Rockman-Greenberg C, Sparkes R, Wilson BJ, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Karaceper MD, et al. Among authors: mitchell jj. Orphanet J Rare Dis. 2016 Feb 3;11:12. doi: 10.1186/s13023-016-0391-5. Orphanet J Rare Dis. 2016. PMID: 26841949 Free PMC article.
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, Tessier L, Chakraborty P, Coyle D, Dyack S, Gillis J, Greenberg C, Hayeems RZ, Jain-Ghai S, Kronick JB, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wafa S, Walia J, Wilson K, Yuskiv N, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Siddiq S, et al. Among authors: mitchell jj. Orphanet J Rare Dis. 2016 Dec 7;11(1):168. doi: 10.1186/s13023-016-0548-2. Orphanet J Rare Dis. 2016. PMID: 27927250 Free PMC article.
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
Potter BK, Hutton B, Clifford TJ, Pallone N, Smith M, Stockler S, Chakraborty P, Barbeau P, Garritty CM, Pugliese M, Rahman A, Skidmore B, Tessier L, Tingley K, Coyle D, Greenberg CR, Korngut L, MacKenzie A, Mitchell JJ, Nicholls S, Offringa M, Schulze A, Taljaard M; Canadian Inherited Metabolic Diseases Research Network. Potter BK, et al. Among authors: mitchell jj. Trials. 2017 Dec 19;18(1):603. doi: 10.1186/s13063-017-2327-3. Trials. 2017. PMID: 29258568 Free PMC article. Review.
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.
Karaceper MD, Khangura SD, Wilson K, Coyle D, Brownell M, Davies C, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Hawken S, Hayeems RZ, Kronick JB, Laberge AM, Little J, Mhanni A, Mitchell JJ, Nakhla M, Potter M, Prasad C, Rockman-Greenberg C, Sparkes R, Stockler S, Ueda K, Vallance H, Wilson BJ, Chakraborty P, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Karaceper MD, et al. Among authors: mitchell jj. Orphanet J Rare Dis. 2019 Mar 22;14(1):70. doi: 10.1186/s13023-019-1001-0. Orphanet J Rare Dis. 2019. PMID: 30902101 Free PMC article.
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 K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Tingley K, et al. Among authors: mitchell jj, mitchell g. Orphanet J Rare Dis. 2020 Apr 10;15(1):89. doi: 10.1186/s13023-020-01358-z. Orphanet J Rare Dis. 2020. PMID: 32276663 Free PMC article.
206 results