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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: ratko s. 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.
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Yuskiv N, Potter BK, Stockler S, Ueda K, Giezen A, Cheng B, Langley E, Ratko S, Austin V, Chapman M, Chakraborty P, Collet JP, Pender A; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Yuskiv N, et al. Among authors: ratko s. Orphanet J Rare Dis. 2019 Jan 8;14(1):7. doi: 10.1186/s13023-018-0978-0. Orphanet J Rare Dis. 2019. PMID: 30621767 Free PMC article.
Five-month-old male with chronic diarrhea.
Barootes HC, Peebles ER, Ashok D, Ratko S, Yu AC. Barootes HC, et al. Among authors: ratko s. Paediatr Child Health. 2019 Nov 30;25(8):483-484. doi: 10.1093/pch/pxz155. eCollection 2020 Dec. Paediatr Child Health. 2019. PMID: 33354255 Free PMC article. No abstract available.
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
Vlasschaert C, McIntyre AD, Thomson LA, Kennedy BA, Ratko S, Prasad C, Hegele RA. Vlasschaert C, et al. Among authors: ratko s. J Investig Med High Impact Case Rep. 2021 Jan-Dec;9:23247096211022484. doi: 10.1177/23247096211022484. J Investig Med High Impact Case Rep. 2021. PMID: 34078172 Free PMC article.
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: ratko s. BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. BMC Pediatr. 2024. PMID: 38216926 Free PMC article.
12 results