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The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper MD, Chakraborty P, Coyle D, Wilson K, Kronick JB, Hawken S, Davies C, Brownell M, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Laberge AM, Mhanni A, Miller FA, Mitchell JJ, Nakhla M, Prasad C, Rockman-Greenberg C, Sparkes R, Wilson BJ, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Karaceper MD, et al. Among authors: mhanni a. Orphanet J Rare Dis. 2016 Feb 3;11:12. doi: 10.1186/s13023-016-0391-5. Orphanet J Rare Dis. 2016. PMID: 26841949 Free PMC article.
A novel WFS1 variant associated with isolated congenital cataracts.
Krutish A, Elmore J, Ilse W, Johnston JL, Hittel D, Kerr M, Khan A, Rockman-Greenberg C, Mhanni AA; Canadian Prairie Metabolic Network (CPMN). Krutish A, et al. Among authors: mhanni aa. Cold Spring Harb Mol Case Stud. 2023 Mar 24;9(1):a006259. doi: 10.1101/mcs.a006259. Print 2023 Feb. Cold Spring Harb Mol Case Stud. 2023. PMID: 36781206 Free PMC article.
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: mhanni a. JIMD Rep. 2015;21:15-22. doi: 10.1007/8904_2014_347. Epub 2015 Feb 26. JIMD Rep. 2015. PMID: 25716610 Free PMC 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: mhanni a. 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.
67 results