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Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T. Shen JS, et al. Among authors: west ml. Hum Mol Genet. 2017 Mar 15;26(6):1182-1192. doi: 10.1093/hmg/ddx032. Hum Mol Genet. 2017. PMID: 28158561
Agalsidase alfa and kidney dysfunction in Fabry disease.
West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R, Ries M, Schiffmann R. West M, et al. J Am Soc Nephrol. 2009 May;20(5):1132-9. doi: 10.1681/ASN.2008080870. Epub 2009 Apr 8. J Am Soc Nephrol. 2009. PMID: 19357250 Free PMC article.
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: west ml. 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.
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE. van der Tol L, et al. Among authors: west ml. Mol Genet Metab. 2015 Feb;114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. Epub 2014 Aug 20. Mol Genet Metab. 2015. PMID: 25187469
142 results