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8,551 results

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Page 1
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: mitchell jj. 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.
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
Potter BK, Hutton B, Clifford TJ, Pallone N, Smith M, Stockler S, Chakraborty P, Barbeau P, Garritty CM, Pugliese M, Rahman A, Skidmore B, Tessier L, Tingley K, Coyle D, Greenberg CR, Korngut L, MacKenzie A, Mitchell JJ, Nicholls S, Offringa M, Schulze A, Taljaard M; Canadian Inherited Metabolic Diseases Research Network. Potter BK, et al. Among authors: mitchell jj. Trials. 2017 Dec 19;18(1):603. doi: 10.1186/s13063-017-2327-3. Trials. 2017. PMID: 29258568 Free PMC article. Review.
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: mitchell jj. 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.
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Butcher NJ, Offringa M, Smith M, Angel K, Gentle J, Wyatt A, Campeau PM, Chan A, Chakraborty P, El Turk F, Mamak E, Mhanni A, Skidmore B, Sparkes R, Stockler S, Potter BK; INFORM RARE Network. Howie AH, et al. Among authors: mitchell jj. Trials. 2021 Nov 17;22(1):816. doi: 10.1186/s13063-021-05791-8. Trials. 2021. PMID: 34789302 Free PMC article.
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Butcher NJ, Offringa M, Smith M, Angel K, Gentle J, Wyatt A, Campeau PM, Chan A, Chakraborty P, El Turk F, Mamak E, Mhanni A, Skidmore B, Sparkes R, Stockler S, Potter BK; INFORM RARE Network. Howie AH, et al. Among authors: mitchell jj. Trials. 2021 Dec 9;22(1):893. doi: 10.1186/s13063-021-05893-3. Trials. 2021. PMID: 34886877 Free PMC article. No abstract available.
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Angel K, Gentle J, Smith M, Offringa M, Butcher NJ, Campeau PM, Chakraborty P, Chan A, Fergusson D, Mamak E, McClelland P, Mercimek-Andrews S, Mhanni A, Moazin Z, Rockman-Greenberg C, Rupar CA, Skidmore B, Stockler S, Thavorn K, Wyatt A, Potter BK; INFORM RARE Network. Howie AH, et al. Among authors: mitchell jj. Orphanet J Rare Dis. 2024 Oct 23;19(1):393. doi: 10.1186/s13023-024-03364-x. Orphanet J Rare Dis. 2024. PMID: 39443985 Free PMC article. Review.
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. Among authors: mitchell jj. 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.
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N. Trakadis YJ, et al. Among authors: mitchell j. J Inherit Metab Dis. 2014 May;37(3):461-73. doi: 10.1007/s10545-013-9664-5. Epub 2013 Dec 5. J Inherit Metab Dis. 2014. PMID: 24305960
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: mitchell jj, mitchell g. JIMD Rep. 2015;21:15-22. doi: 10.1007/8904_2014_347. Epub 2015 Feb 26. JIMD Rep. 2015. PMID: 25716610 Free PMC article.
8,551 results