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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 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: maranda b. 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.
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: maranda b. 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: maranda b. 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: maranda b. JIMD Rep. 2015;21:15-22. doi: 10.1007/8904_2014_347. Epub 2015 Feb 26. JIMD Rep. 2015. PMID: 25716610 Free PMC article.
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 BK, Chakraborty P, Kronick JB, Wilson K, Coyle D, Feigenbaum A, Geraghty MT, Karaceper MD, Little J, Mhanni A, Mitchell JJ, Siriwardena K, Wilson BJ, Syrowatka A; Canadian Inherited Metabolic Diseases Research Network. Potter BK, et al. Genet Med. 2013 Jun;15(6):415-22. doi: 10.1038/gim.2012.153. Epub 2012 Dec 6. Genet Med. 2013. PMID: 23222662 Free PMC article. Review.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Stockler-Ipsiroglu S, et al. Among authors: maranda b. Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7. Mol Genet Metab. 2014. PMID: 24268530 Free article.
The Québec NTBC Study.
Québec NTBC Study Group; Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, Melançon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF. Québec NTBC Study Group, et al. Among authors: maranda b. Adv Exp Med Biol. 2017;959:187-195. doi: 10.1007/978-3-319-55780-9_17. Adv Exp Med Biol. 2017. PMID: 28755196 Review.
77 results