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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.
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT. McCready ME, et al. Among authors: clarke jt. Mol Genet Metab. 2007 Dec;92(4):325-35. doi: 10.1016/j.ymgme.2007.07.006. Epub 2007 Aug 27. Mol Genet Metab. 2007. PMID: 17723315
Barth syndrome: clinical observations and genetic linkage studies.
Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt BA, Bridge PJ, Robinson BH, Clarke JT. Christodoulou J, et al. Among authors: clarke jt. Am J Med Genet. 1994 Apr 15;50(3):255-64. doi: 10.1002/ajmg.1320500309. Am J Med Genet. 1994. PMID: 8042670
4,215 results