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Page 1
Atypical late presentation of galactosemia.
Simpson SM, MacKenzie JJ, Strube YNJ. Simpson SM, et al. Among authors: mackenzie jj. Can J Ophthalmol. 2019 Aug;54(4):e194-e196. doi: 10.1016/j.jcjo.2018.10.004. Epub 2018 Nov 24. Can J Ophthalmol. 2019. PMID: 31358168 No abstract available.
Student Reflections on the Queen's Accelerated Route to Medical School Programme.
MacKenzie JJ, Stockley D, Hastings-Truelove A, Nowlan Suart T, Katsoulas E, Kawaja M, Reznick R, Sanfilippo A. MacKenzie JJ, et al. J Med Educ Curric Dev. 2019 Mar 28;6:2382120519836789. doi: 10.1177/2382120519836789. eCollection 2019 Jan-Dec. J Med Educ Curric Dev. 2019. PMID: 30944887 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: mackenzie j. 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.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA. Gannavarapu S, et al. Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31. Mol Genet Metab. 2015. PMID: 26361991
Parents' Understanding of Genetics and Heritability.
Harding B, Egan R, Kannu P, MacKenzie JJ. Harding B, et al. Among authors: mackenzie jj. J Genet Couns. 2017 Jun;26(3):541-547. doi: 10.1007/s10897-016-0021-3. Epub 2016 Oct 17. J Genet Couns. 2017. PMID: 27747461
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
Chow AJ, Iverson R, Lamoureux M, Tingley K, Jordan I, Pallone N, Smith M, Al-Baldawi Z, Chakraborty P, Brehaut J, Chan A, Cohen E, Dyack S, Gillis LJ, Goobie S, Graham ID, Greenberg CR, Grimshaw JM, Hayeems RZ, Jain-Ghai S, Jolly A, Khangura S, MacKenzie JJ, Major N, Mitchell JJ, Nicholls SG, Pender A, Potter M, Prasad C, Prosser LA, Schulze A, Siriwardena K, Sparkes R, Speechley K, Stockler S, Taljaard M, Teitelbaum M, Trakadis Y, van Karnebeek C, Walia JS, Wilson BJ, Wilson K, Potter BK. Chow AJ, et al. Among authors: mackenzie jj. BMJ Open. 2022 Feb 22;12(2):e055664. doi: 10.1136/bmjopen-2021-055664. BMJ Open. 2022. PMID: 35193919 Free PMC article.
54 results