Research Topics
Species | Dominique Paul GermainSummaryCountry: France Publications
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Publications
[Fabry disease in 2004]Dominique Paul Germain
Unit de génétique clinique, Hopital Europeen Georges Pompidou, 75015 Paris
Rev Prat 53:2215-20. 2003..The documentation of short-term clinical benefits could require the use of sophisticated investigation methods such as the study of the myocardial function by tissue Doppler imaging...- Vascular Ehlers-Danlos syndromeDominique P Germain
Clinical Genetics Unit, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
Ann Genet 47:1-9. 2004.... 
Ehlers-Danlos syndrome type IVDominique P Germain
Centre de référence pour la maladie de Fabry et les maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos, pseudoxanthome élastique, mucopolysaccharidoses, Assistance Publique Hopitaux de Paris, Paris, France
Orphanet J Rare Dis 2:32. 2007..Conservative approach is usually recommended when caring for a vascular complication in a patient suffering from EDS type IV. Surgery may, however, be required urgently to treat potentially fatal complications...- [Fabry disease. Clinical and genetic aspects. Therapeutic perspectives]D P Germain
Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Rev Med Interne 21:1086-103. 2000.... - [Gaucher disease: clinical, genetic and therapeutic aspects]D P Germain
Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Pathol Biol (Paris) 52:343-50. 2004..Enzyme replacement therapy cannot reverse the neurological deficits in type 2 or type 3 Gaucher disease. This should prompt further research on substrate deprivation and gene therapy... - Gaucher's disease: a paradigm for interventional geneticsD P Germain
Clinical Genetics Unit, Hopital Europeen Georges Pompidou, Paris, France
Clin Genet 65:77-86. 2004..Small molecule inhibitors of glucosylceramide synthase are being developed for substrate reduction therapy. Other potential therapeutic options such as chaperon-mediated enzyme enhancement therapy and gene therapy are being explored... 
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypesDominique P Germain
Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
Mol Med 8:306-12. 2002....- Fabry disease: recent advances in enzyme replacement therapyDominique P Germain
Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Expert Opin Investig Drugs 11:1467-76. 2002..The complexity and relative rarity of Fabry disease necessitates a multi-disciplinary team approach that may be facilitated by a disease registry... - [Lysosomes and lysosomal storage diseases]Dominique P Germain
Département de génétique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
J Soc Biol 196:127-34. 2002.... - Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to algluceraseD P Germain
Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
Mutat Res 483:89-94. 2001..Our results may help to shed light on the mechanisms underlying this phenomenon which, in the rare instances where it occurs, hampers the efficacy of enzyme replacement therapy... - Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin lesionsD P Germain
Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, F 75015 Paris, France
Clin Genet 60:63-7. 2001..Karyotype analysis was normal. It is likely that the mixed vascular malformations of KTWS affecting capillary and venous systems have contributed to the unusual angiokeratoma distribution pattern observed in the patient... - Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry diseaseD P Germain
, , Paris, France
Hum Mutat 17:353. 2001 - [Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]Dominique Paul Germain
Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris
J Soc Biol 196:161-73. 2002..Long term safety and efficacy of replacement therapy are currently being investigated... - [Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations]Dominique P Germain
, , 20, rue Leblanc, 75015 Paris
J Soc Biol 196:183-90. 2002..Long term safety and efficacy of replacement therapy are currently being investigated. Substrate deprivation and gene therapy may also prove future alternative therapeutic options... - [Large artery and left ventricular remodelling in Fabry disease.]Pierre Boutouyrie
Universite Paris Descartes, Faculte de Medecine, Département de Pharmacologie et Inserm U 652, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, 20 rue Leblanc, 75015 Paris, France
Med Sci (Paris) 21:30-2. 2005..These results show that tissues of the cardiovascular system tend to be oversensitive to trophic signals in patients with Fabry disease. double dagger... 
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trialKim Thanh Ong
Assistance Publique, Hopitaux de Paris, Hopital Europeen Georges Pompidou, Paris, France
Lancet 376:1476-84. 2010..Our aim was to assess the ability of celiprolol, a β(1)-adrenoceptor antagonist with a β(2)-adrenoceptor agonist action, to prevent arterial dissections and ruptures in vascular Ehlers-Danlos syndrome...- Clinical and genetic features of vascular Ehlers-Danlos syndromeDominique P Germain
, , Paris, France
Ann Vasc Surg 16:391-7. 2002..Diagnosis should be suspected in any young person presenting with arterial or visceral rupture, carotid dissection, or colonic perforation. There are currently no specific treatments for EDS... - Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry diseaseDominique P Germain
Assistance Publique Hopitaux de Paris, Paris, France
J Am Soc Nephrol 18:1547-57. 2007..Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types... - [Functional renal investigation in Fabry disease]Marc Froissart
Departement de Physiologie, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, INSERM U872 et Université Paris Descartes, Paris 75, France
Presse Med 36:1S36-42. 2007.... - Fabry disease: the need to stratify patient populations to better understand the outcome of enzyme replacement therapyDominique P Germain
, , Paris, France
Clin Ther 29:S17-8. 2007 - Chiari type I malformation in four unrelated patients affected with Fabry diseaseDominique P Germain
Assistance Publique Hopitaux de Paris, Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Eur J Med Genet 49:419-25. 2006..Whether the association is coincidental or not will need further studies but our data suggest that CMI should be ruled out in all Fabry patients... - Increased carotid wall stress in vascular Ehlers-Danlos syndromePierre Boutouyrie
Department of Pharmacology and INSERM EMI 0107, , Paris, France
Circulation 109:1530-5. 2004..CONCLUSIONS: In vEDS patients, an abnormally low intima-media thickness generates a higher wall stress than in control subjects at the site of an elastic artery, which may increase the risk of arterial dissection and rupture...