Germain DP - Search Results

1

Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.

Caudron E, Prognon P, Germain DP. Caudron E, et al. Among authors: germain dp. Eur J Med Genet. 2015 Dec;58(12):681-4. doi: 10.1016/j.ejmg.2015.10.014. Epub 2015 Oct 28. Eur J Med Genet. 2015. PMID: 26520229

2

Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.

Germain D, Biasotto M, Tosi M, Meo T, Kahn A, Poenaru L. Germain D, et al. Hum Genet. 1996 Dec;98(6):719-26. doi: 10.1007/s004390050292. Hum Genet. 1996. PMID: 8931708

3

[Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations].

Germain DP. Germain DP. J Soc Biol. 2002;196(2):183-90. J Soc Biol. 2002. PMID: 12360747 Review. French.

4

Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

Germain DP, Avan P, Chassaing A, Bonfils P. Germain DP, et al. BMC Med Genet. 2002 Oct 11;3:10. doi: 10.1186/1471-2350-3-10. BMC Med Genet. 2002. PMID: 12377100 Free PMC article.

5

Fabry disease: recent advances in enzyme replacement therapy.

Germain DP. Germain DP. Expert Opin Investig Drugs. 2002 Oct;11(10):1467-76. doi: 10.1517/13543784.11.10.1467. Expert Opin Investig Drugs. 2002. PMID: 12387706 Review.

6

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

Germain DP, Shabbeer J, Cotigny S, Desnick RJ. Germain DP, et al. Mol Med. 2002 Jun;8(6):306-12. Mol Med. 2002. PMID: 12428061 Free PMC article.

7

Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients.

Orssaud C, Dufier J, Germain D. Orssaud C, et al. Ophthalmic Genet. 2003 Sep;24(3):129-39. doi: 10.1076/opge.24.3.129.15609. Ophthalmic Genet. 2003. PMID: 12868031

8

Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease.

Touboul D, Roy S, Germain DP, Baillet A, Brion F, Prognon P, Chaminade P, Laprévote O. Touboul D, et al. Among authors: germain dp. Anal Bioanal Chem. 2005 Jul;382(5):1209-16. doi: 10.1007/s00216-005-3239-8. Epub 2005 Jun 16. Anal Bioanal Chem. 2005. PMID: 15959771

9

Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.

Delobel A, Roy S, Touboul D, Gaudin K, Germain DP, Baillet A, Brion F, Prognon P, Chaminade P, Laprévote O. Delobel A, et al. Among authors: germain dp. J Mass Spectrom. 2006 Jan;41(1):50-8. doi: 10.1002/jms.945. J Mass Spectrom. 2006. PMID: 16287034

10

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

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