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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: oliveira jp. 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
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.
Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet DG, Burlina A, Cole D, Elliott P, Feldt-Rasmussen U, Feriozzi S, Fletcher J, Giugliani R, Jovanovic A, Kampmann C, Langeveld M, Lidove O, Linhart A, Mauer M, Moon JC, Muir A, Nowak A, Oliveira JP, Ortiz A, Pintos-Morell G, Politei J, Rozenfeld P, Schiffmann R, Svarstad E, Talbot AS, Thomas M, Tøndel C, Warnock D, West ML, Hughes DA. Moreno-Martinez D, et al. Among authors: oliveira jp. Mol Genet Metab. 2021 Apr;132(4):234-243. doi: 10.1016/j.ymgme.2021.02.001. Epub 2021 Feb 20. Mol Genet Metab. 2021. PMID: 33642210
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP, Oliveira JP, Bichet DG, Yoo HW, Hopkin RJ, Lemay R, Politei J, Wanner C, Wilcox WR, Warnock DG. Germain DP, et al. Among authors: oliveira jp. J Med Genet. 2020 Aug;57(8):542-551. doi: 10.1136/jmedgenet-2019-106467. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161151 Free PMC article.
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Wilcox WR, et al. Among authors: oliveira jp. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18037317
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: oliveira jp. 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
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).
Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F, Geldenhuys L, West M, Ferluga D, Vujkovac B, Howie AJ, Burns A, Reeve R, Waldek S, Noël LH, Grünfeld JP, Valbuena C, Oliveira JP, Müller J, Breunig F, Zhang X, Warnock DG; all members of the International Study Group of Fabry Nephropathy (ISGFN). Fogo AB, et al. Among authors: oliveira jp. Nephrol Dial Transplant. 2010 Jul;25(7):2168-77. doi: 10.1093/ndt/gfp528. Epub 2009 Oct 15. Nephrol Dial Transplant. 2010. PMID: 19833663 Free PMC article.
288 results