Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

294 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
A validated disease severity scoring system for Fabry disease.
Giannini EH, Mehta AB, Hilz MJ, Beck M, Bichet DG, Brady RO, West M, Germain DP, Wanner C, Waldek S, Clarke JT, Mengel E, Strotmann JM, Warnock DG, Linhart A. Giannini EH, et al. Among authors: germain dp. Mol Genet Metab. 2010 Mar;99(3):283-90. doi: 10.1016/j.ymgme.2009.10.178. Epub 2009 Oct 30. Mol Genet Metab. 2010. PMID: 19951842
Fabry disease: a review of current management strategies.
Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, Rolfs A, Rivera A, Waldek S, Germain DP. Mehta A, et al. Among authors: germain dp. QJM. 2010 Sep;103(9):641-59. doi: 10.1093/qjmed/hcq117. Epub 2010 Jul 21. QJM. 2010. PMID: 20660166 Review.
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.
Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease.
Collin C, Briet M, Tran TC, Beaussier H, Benistan K, Bensalah M, Mousseaux E, Froissart M, Bozec E, Laurent S, Boutouyrie P, Germain DP. Collin C, et al. Among authors: germain dp. Eur J Prev Cardiol. 2012 Feb;19(1):43-54. doi: 10.1177/1741826710391118. Epub 2011 Mar 4. Eur J Prev Cardiol. 2012. PMID: 21450622
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.
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
Auray-Blais C, Blais CM, Ramaswami U, Boutin M, Germain DP, Dyack S, Bodamer O, Pintos-Morell G, Clarke JT, Bichet DG, Warnock DG, Echevarria L, West ML, Lavoie P. Auray-Blais C, et al. Among authors: germain dp. Clin Chim Acta. 2015 Jan 1;438:195-204. doi: 10.1016/j.cca.2014.08.002. Epub 2014 Aug 19. Clin Chim Acta. 2015. PMID: 25149322 Clinical Trial.
Raynaud's phenomenon associated with Fabry disease.
Germain DP, Atanasiu OI, Akrout-Marouene J, Benistan K. Germain DP, et al. J Inherit Metab Dis. 2015 Mar;38(2):367-8. doi: 10.1007/s10545-014-9799-z. Epub 2014 Dec 16. J Inherit Metab Dis. 2015. PMID: 25511234 No abstract available.
294 results