Casey R - Search Results

1

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

Christodoulou J, Danks DM, Sarkar B, Baerlocher KE, Casey R, Horn N, Tümer Z, Clarke JT. Christodoulou J, et al. Among authors: casey r. Am J Med Genet. 1998 Mar 5;76(2):154-64. Am J Med Genet. 1998. PMID: 9511979

2

Outcomes of patients treated through the Canadian Fabry disease initiative.

Sirrs SM, Bichet DG, Casey R, Clarke JT, Lemoine K, Doucette S, West ML; CFDI investigators. Sirrs SM, et al. Among authors: casey r. Mol Genet Metab. 2014 Apr;111(4):499-506. doi: 10.1016/j.ymgme.2014.01.014. Epub 2014 Feb 2. Mol Genet Metab. 2014. PMID: 24534763 Clinical Trial.

3

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: casey r. 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

4

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

5

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.

6

Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

Sirrs S, Clarke JT, Bichet DG, Casey R, Lemoine K, Flowerdew G, Sinasac DS, West ML. Sirrs S, et al. Among authors: casey r. Mol Genet Metab. 2010 Apr;99(4):367-73. doi: 10.1016/j.ymgme.2009.11.001. Epub 2009 Nov 16. Mol Genet Metab. 2010. PMID: 20022777 Clinical Trial.

7

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.

Wang MS, Schinzel A, Kotzot D, Balmer D, Casey R, Chodirker BN, Gyftodimou J, Petersen MB, Lopez-Rangel E, Robinson WP. Wang MS, et al. Among authors: casey r. Am J Med Genet. 1999 Sep 3;86(1):34-43. Am J Med Genet. 1999. PMID: 10440826

8

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP. Davey KM, et al. Among authors: casey r. J Med Genet. 2006 May;43(5):385-93. doi: 10.1136/jmg.2005.036657. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055927 Free PMC article.

9

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ. Corzo D, et al. Among authors: casey r. Am J Hum Genet. 2002 Jun;70(6):1520-31. doi: 10.1086/340849. Epub 2002 Apr 29. Am J Hum Genet. 2002. PMID: 11992258 Free PMC article.

10

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Auray-Blais C, Ntwari A, Clarke JT, Warnock DG, Oliveira JP, Young SP, Millington DS, Bichet DG, Sirrs S, West ML, Casey R, Hwu WL, Keutzer JM, Zhang XK, Gagnon R. Auray-Blais C, et al. Among authors: casey r. Clin Chim Acta. 2010 Dec 14;411(23-24):1906-14. doi: 10.1016/j.cca.2010.07.038. Epub 2010 Aug 14. Clin Chim Acta. 2010. PMID: 20716442

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