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Page 1
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: stockler s. JIMD Rep. 2015;21:15-22. doi: 10.1007/8904_2014_347. Epub 2015 Feb 26. JIMD Rep. 2015. PMID: 25716610 Free PMC article.
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
Khangura SD, Tingley K, Chakraborty P, Coyle D, Kronick JB, Laberge AM, Little J, Miller FA, Mitchell JJ, Prasad C, Siddiq S, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wilson BJ, Wilson K, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Khangura SD, et al. Among authors: stockler s. J Inherit Metab Dis. 2016 Jan;39(1):139-47. doi: 10.1007/s10545-015-9881-1. Epub 2015 Jul 25. J Inherit Metab Dis. 2016. PMID: 26209272 Free PMC article.
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. Among authors: stockler s. 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.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Khangura SD, et al. Among authors: stockler s. BMC Pediatr. 2015 Feb 13;15:7. doi: 10.1186/s12887-015-0323-x. BMC Pediatr. 2015. PMID: 25886474 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. Among authors: stockler s. 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.
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: stockler s. BMJ Open. 2022 Feb 22;12(2):e055664. doi: 10.1136/bmjopen-2021-055664. BMJ Open. 2022. PMID: 35193919 Free PMC article.
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. van Karnebeek CD, et al. Among authors: stockler s. Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23022070 Free article.
Atypical cerebral palsy: genomics analysis enables precision medicine.
Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study. Matthews AM, et al. Among authors: stockler s. Genet Med. 2019 Jul;21(7):1621-1628. doi: 10.1038/s41436-018-0376-y. Epub 2018 Dec 13. Genet Med. 2019. PMID: 30542205 Free 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. Among authors: stockler s. 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.
102 results