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Fabry disease: the need to stratify patient populations to better understand the outcome of enzyme replacement therapy.
Germain DP. Germain DP. Clin Ther. 2007;29 Suppl A:S17-8. doi: 10.1016/s0149-2918(07)80122-6. Clin Ther. 2007. PMID: 17580237 No abstract available.
Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients.
Orssaud C, Dufier J, Germain D. Orssaud C, et al. Among authors: germain d. Ophthalmic Genet. 2003 Sep;24(3):129-39. doi: 10.1076/opge.24.3.129.15609. Ophthalmic Genet. 2003. PMID: 12868031
Fabry disease.
Germain DP. Germain DP. Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. Orphanet J Rare Dis. 2010. PMID: 21092187 Free PMC article. Review.
Adult patients with Fabry disease: what does the cardiologist need to know?
Hagège AA, Germain DP. Hagège AA, et al. Among authors: germain dp. Heart. 2015 Jun;101(12):916-8. doi: 10.1136/heartjnl-2015-307472. Epub 2015 Mar 11. Heart. 2015. PMID: 25761995 No abstract available.
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S, Lockhart DJ, Boudes PF. Germain DP, et al. Orphanet J Rare Dis. 2012 Nov 24;7:91. doi: 10.1186/1750-1172-7-91. Orphanet J Rare Dis. 2012. PMID: 23176611 Free PMC article. Clinical Trial.
Chiari type I malformation in four unrelated patients affected with Fabry disease.
Germain DP, Benistan K, Halimi P. Germain DP, et al. Eur J Med Genet. 2006 Sep-Oct;49(5):419-25. doi: 10.1016/j.ejmg.2006.01.007. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16510324
Fabry disease revisited: Management and treatment recommendations for adult patients.
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Ortiz A, et al. Among authors: germain dp. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Mol Genet Metab. 2018. PMID: 29530533 Review.
Clinical utility gene card for: Fabry disease - update 2016.
Gal A, Beck M, Höppner W, Germain DP. Gal A, et al. Among authors: germain dp. Eur J Hum Genet. 2017 Jun;25(7):e1-e3. doi: 10.1038/ejhg.2017.17. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327573 Free PMC article. No abstract available.
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.
Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG. Ortiz A, et al. Among authors: germain dp. J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18. J Med Genet. 2016. PMID: 26993266 Free PMC article. Clinical Trial.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Germain DP, et al. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795794 Free PMC article. Clinical Trial.
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