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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 1
1990 2
1991 2
1992 1
1993 1
1995 3
1996 2
1997 1
2000 1
2001 1
2002 5
2003 2
2004 2
2005 1
2006 4
2007 4
2008 3
2009 6
2010 9
2011 4
2012 9
2013 10
2014 6
2015 7
2016 6
2017 8
2018 3
2019 3
2020 1
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Similar Articles for PMID: 27979989

92 results
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Page 1
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE. Arends M, et al. J Am Soc Nephrol. 2017 May;28(5):1631-1641. doi: 10.1681/ASN.2016090964. Epub 2016 Dec 15. J Am Soc Nephrol. 2017. PMID: 27979989 Free PMC article.
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.
Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, Wijburg FA, Kuiper S, Vd Bergh Weerman MA, Groener JE, Poorthuis BJ, Hollak CE, Aerts JM. Rombach SM, et al. Biochim Biophys Acta. 2010 Sep;1802(9):741-8. doi: 10.1016/j.bbadis.2010.05.003. Epub 2010 May 13. Biochim Biophys Acta. 2010. PMID: 20471476 Free article.
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, Watkinson OT, Vaz FM, van Kuilenburg ABP, Wanner C, Hollak CEM. Arends M, et al. PLoS One. 2017 Aug 1;12(8):e0182379. doi: 10.1371/journal.pone.0182379. eCollection 2017. PLoS One. 2017. PMID: 28763515 Free PMC article.
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).
Liao HC, Huang YH, Chen YJ, Kao SM, Lin HY, Huang CK, Liu HC, Hsu TR, Lin SP, Yang CF, Fann CS, Chiu PC, Hsieh KS, Fu YC, Ke YY, Lin CY, Tsai FJ, Wang CH, Chao MC, Yu WC, Chiang CC, Niu DM. Liao HC, et al. Clin Chim Acta. 2013 Nov 15;426:114-20. doi: 10.1016/j.cca.2013.09.008. Epub 2013 Sep 19. Clin Chim Acta. 2013. PMID: 24055776 Free article.
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W, Benveniste O, Amelin D, Montagner C, Lamari F, Caillaud C, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O. Mauhin W, et al. PLoS One. 2020 May 22;15(5):e0233460. doi: 10.1371/journal.pone.0233460. eCollection 2020. PLoS One. 2020. PMID: 32442237 Free PMC article.
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW. Choi JH, et al. Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387. Medicine (Baltimore). 2017. PMID: 28723748 Free PMC article.
Fabry disease: focus on cardiac manifestations and molecular mechanisms.
Perrot A, Osterziel KJ, Beck M, Dietz R, Kampmann C. Perrot A, et al. Herz. 2002 Nov;27(7):699-702. doi: 10.1007/s00059-002-2429-9. Herz. 2002. PMID: 12439642
Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.
van der Tol L, Sminia ML, Hollak CE, Biegstraaten M. van der Tol L, et al. Br J Ophthalmol. 2016 Jan;100(1):3-8. doi: 10.1136/bjophthalmol-2014-306433. Epub 2015 Feb 12. Br J Ophthalmol. 2016. PMID: 25677671 Review.
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
Smid BE, Hollak CE, Poorthuis BJ, van den Bergh Weerman MA, Florquin S, Kok WE, Lekanne Deprez RH, Timmermans J, Linthorst GE. Smid BE, et al. Clin Genet. 2015 Aug;88(2):161-6. doi: 10.1111/cge.12449. Epub 2014 Sep 5. Clin Genet. 2015. PMID: 25040344
Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey.
Hughes DA, Barba Romero MÁ, Hollak CE, Giugliani R, Deegan PB. Hughes DA, et al. Mol Genet Metab. 2011 Jul;103(3):207-14. doi: 10.1016/j.ymgme.2011.03.022. Epub 2011 Mar 31. Mol Genet Metab. 2011. PMID: 21543245 Clinical Trial.
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