Dominique Paul Germain

Summary

Country: France

Publications

  1. ncbi request reprint [Fabry disease in 2004]
    Dominique Paul Germain
    Unit de génétique clinique, Hopital Europeen Georges Pompidou, 75015 Paris
    Rev Prat 53:2215-20. 2003
  2. ncbi request reprint Vascular Ehlers-Danlos syndrome
    Dominique P Germain
    Clinical Genetics Unit, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
    Ann Genet 47:1-9. 2004
  3. pmc Ehlers-Danlos syndrome type IV
    Dominique 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
  4. ncbi request reprint [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
  5. ncbi request reprint [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
  6. ncbi request reprint Gaucher's disease: a paradigm for interventional genetics
    D P Germain
    Clinical Genetics Unit, Hopital Europeen Georges Pompidou, Paris, France
    Clin Genet 65:77-86. 2004
  7. pmc Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes
    Dominique P Germain
    Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
    Mol Med 8:306-12. 2002
  8. ncbi request reprint Fabry disease: recent advances in enzyme replacement therapy
    Dominique P Germain
    Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Expert Opin Investig Drugs 11:1467-76. 2002
  9. ncbi request reprint Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease
    D P Germain
    Département de génétique, Hopital Europeen Georges Pompidou, Paris, France
    Hum Mutat 17:353. 2001
  10. ncbi request reprint [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

Collaborators

Detail Information

Publications23

  1. ncbi request reprint [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...
  2. ncbi request reprint Vascular Ehlers-Danlos syndrome
    Dominique P Germain
    Clinical Genetics Unit, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
    Ann Genet 47:1-9. 2004
    ....
  3. pmc Ehlers-Danlos syndrome type IV
    Dominique 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...
  4. ncbi request reprint [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
    ..This review presents the clinical and genetic aspects of Fabry disease, along with recent advances in research...
  5. ncbi request reprint [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...
  6. ncbi request reprint Gaucher's disease: a paradigm for interventional genetics
    D 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...
  7. pmc Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes
    Dominique P Germain
    Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
    Mol Med 8:306-12. 2002
    ....
  8. ncbi request reprint Fabry disease: recent advances in enzyme replacement therapy
    Dominique 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...
  9. ncbi request reprint Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease
    D P Germain
    Département de génétique, Hopital Europeen Georges Pompidou, Paris, France
    Hum Mutat 17:353. 2001
  10. ncbi request reprint [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
    ....
  11. ncbi request reprint Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin lesions
    D 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...
  12. ncbi request reprint Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase
    D 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...
  13. ncbi request reprint [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...
  14. ncbi request reprint [Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations]
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 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...
  15. ncbi request reprint [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...
  16. ncbi request reprint Clinical and genetic features of vascular Ehlers-Danlos syndrome
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 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...
  17. doi request reprint Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial
    Kim 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...
  18. ncbi request reprint Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    Dominique 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...
  19. ncbi request reprint [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
    ....
  20. ncbi request reprint Fabry disease: the need to stratify patient populations to better understand the outcome of enzyme replacement therapy
    Dominique P Germain
    Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos et pseudoxanthome élastique, Assistance Publique Hopitaux de Paris, Paris, France
    Clin Ther 29:S17-8. 2007
  21. ncbi request reprint Increased carotid wall stress in vascular Ehlers-Danlos syndrome
    Pierre Boutouyrie
    Department of Pharmacology and INSERM EMI 0107, Hopital Europeen Georges Pompidou, Paris, France
    Circulation 109:1530-5. 2004
    ..Affected patients are at risk for arterial dissection or rupture, the main cause of death. To understand the pathogenesis of the vascular lesions, we used a biomechanical approach and determined steady and pulsatile wall stress...
  22. ncbi request reprint Chiari type I malformation in four unrelated patients affected with Fabry disease
    Dominique 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...