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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: turner l. 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 Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Paik K, Lines MA, Chakraborty P, Khangura SD, Latocki M, Al-Hertani W, Brunel-Guitton C, Khan A, Penny B, Rockman-Greenberg C, Rupar CA, Sondheimer N, Tarnopolsky M, Tingley K, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, van Karnebeek CDM, Kronick JB, Little J, Potter M, Siriwardena K, Sparkes R, Turner LA, Wilson K, Buhas D, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Paik K, et al. Can J Neurol Sci. 2019 Nov;46(6):717-726. doi: 10.1017/cjn.2019.240. Can J Neurol Sci. 2019. PMID: 31387656
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: turner l. 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.
Consent for newborn screening: parents' and health-care professionals' experiences of consent in practice.
Etchegary H, Nicholls SG, Tessier L, Simmonds C, Potter BK, Brehaut JC, Pullman D, Hayeems R, Zelenietz S, Lamoureux M, Milburn J, Turner L, Chakraborty P, Wilson B. Etchegary H, et al. Among authors: turner l. Eur J Hum Genet. 2016 Nov;24(11):1530-1534. doi: 10.1038/ejhg.2016.55. Epub 2016 Jun 15. Eur J Hum Genet. 2016. PMID: 27302842 Free PMC article.
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).
Zapata-Aldana E, McMillan HJ, Rupar T, Brunel-Guitton C, Chakraborty P, Mitchell JJ, Roth J, Tarnopolsky MA, Turner L, Campbell C. Zapata-Aldana E, et al. Among authors: turner l. Paediatr Child Health. 2019 Jul;24(4):270-271. doi: 10.1093/pch/pxy153. Epub 2019 May 8. Paediatr Child Health. 2019. PMID: 31239817 Free PMC article. No abstract available.
What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening.
Nicholls SG, Etchegary H, Tessier L, Simmonds C, Potter BK, Brehaut JC, Pullman D, Hayeems RZ, Zelenietz S, Lamoureux M, Milburn J, Turner L, Chakraborty P, Wilson BJ. Nicholls SG, et al. Among authors: turner l. Public Health Ethics. 2019 May 4;12(2):158-175. doi: 10.1093/phe/phz003. eCollection 2019 Jul. Public Health Ethics. 2019. PMID: 31384304 Free PMC article.
The challenge of periodic fevers in children.
Dancey P, Benseler S, Junker AK, Laxer RM, Miettunen PM, Turner LA, Gattorno M. Dancey P, et al. Paediatr Child Health. 2012 Mar;17(3):123. doi: 10.1093/pch/17.3.123. Paediatr Child Health. 2012. PMID: 23450961 Free PMC article. No abstract available.
1,567 results