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Page 1
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.
Chow AJ, Pugliese M, Tessier LA, Chakraborty P, Iverson R, Coyle D, Kronick JB, Wilson K, Hayeems R, Al-Hertani W, Inbar-Feigenberg M, Jain-Ghai S, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Walia JS, Wilson BJ, Potter BK. Chow AJ, et al. Patient. 2022 Mar;15(2):171-185. doi: 10.1007/s40271-021-00538-8. Epub 2021 Jul 20. Patient. 2022. PMID: 34282509 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. 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.
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. 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.
Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases.
Tingley K, Coyle D, Graham ID, Sikora L, Chakraborty P, Wilson K, Mitchell JJ, Stockler-Ipsiroglu S, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Tingley K, et al. Orphanet J Rare Dis. 2018 Jun 28;13(1):104. doi: 10.1186/s13023-018-0851-1. Orphanet J Rare Dis. 2018. PMID: 29954425 Free PMC article. Review.
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. 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.