Dominique P Germain

Summary

Country: France

Publications

  1. 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
  2. ncbi request reprint [Recent advances of Fabry disease screening for at risk population.]
    Eric Caudron
    Groupe de Chimie Analytique de Paris Sud, EA 3343, Laboratoire de Chimie Analytique, Faculte de Pharmacie, 5, rue Jean Baptiste Clement, 92296 Chatenay Malabry, France
    Med Sci (Paris) 21:48-50. 2005
  3. ncbi request reprint [Bone involvement in Fabry disease.]
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Med Sci (Paris) 21:43-4. 2005
  4. 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
  5. ncbi request reprint [Genetics of Fabry disease: diagnostic and therapeutic implications]
    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 75, France
    Presse Med 36:1S14-9. 2007
  6. ncbi request reprint [Inherited metabolic cardiomyopathies]
    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 75, France
    Presse Med 36:1S48-54. 2007
  7. ncbi request reprint [Development of an orphan drug to treat a genetic disease: the paradigm of agalsidase beta]
    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 75, France
    Presse Med 36:1S69-75. 2007
  8. 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
  9. ncbi request reprint [Enzyme replacement therapies for lysosomal storage disorders.]
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Med Sci (Paris) 21:77-83. 2005
  10. ncbi request reprint [Laboratory diagnosis of Fabry disease: historical perspectives and recent breakthroughs]
    Eric Caudron
    Groupe de Chimie Analytique de Paris Sud, EA 4041 IFR 141, Faculte de Pharmacie Paris XI, Chatenay Malabry, France
    Presse Med 36:1S76-81. 2007

Collaborators

Detail Information

Publications40

  1. 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...
  2. ncbi request reprint [Recent advances of Fabry disease screening for at risk population.]
    Eric Caudron
    Groupe de Chimie Analytique de Paris Sud, EA 3343, Laboratoire de Chimie Analytique, Faculte de Pharmacie, 5, rue Jean Baptiste Clement, 92296 Chatenay Malabry, France
    Med Sci (Paris) 21:48-50. 2005
    ..Only 9 of these 12 hererozygous women (75 %) present a reduced activity of alpha-galactosidase A. double dagger...
  3. ncbi request reprint [Bone involvement in Fabry disease.]
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Med Sci (Paris) 21:43-4. 2005
    ..Using the World Health Organization classification, 20 of the 23 patients (88 %) with FD had either osteopenia (n =11) or osteoporosis (n = 9) at one or both sites. double dagger...
  4. 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...
  5. ncbi request reprint [Genetics of Fabry disease: diagnostic and therapeutic implications]
    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 75, France
    Presse Med 36:1S14-9. 2007
    ..The GLA gene has been cloned and more than 300 mutations have been identified. Most of them are private and have been identified in only one family..
  6. ncbi request reprint [Inherited metabolic cardiomyopathies]
    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 75, France
    Presse Med 36:1S48-54. 2007
    ..In the infantile form of Pompe disease, enzyme replacement therapy with olglucosidase alpha shows efficacy on cardiac failure with a significant regression of ventricular hypertrophy on ECG, echocardiography and radiography..
  7. ncbi request reprint [Development of an orphan drug to treat a genetic disease: the paradigm of agalsidase beta]
    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 75, France
    Presse Med 36:1S69-75. 2007
    ....
  8. 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
  9. ncbi request reprint [Enzyme replacement therapies for lysosomal storage disorders.]
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Med Sci (Paris) 21:77-83. 2005
    ..double dagger...
  10. ncbi request reprint [Laboratory diagnosis of Fabry disease: historical perspectives and recent breakthroughs]
    Eric Caudron
    Groupe de Chimie Analytique de Paris Sud, EA 4041 IFR 141, Faculte de Pharmacie Paris XI, Chatenay Malabry, France
    Presse Med 36:1S76-81. 2007
    ....
  11. 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
    ....
  12. pmc Fabry disease
    Dominique P Germain
    University of Versailles St Quentin en Yvelines, Faculté de Médecine Paris Ile de France Ouest PIFO, 78035 Versailles, France
    Orphanet J Rare Dis 5:30. 2010
    ....
  13. 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...
  14. doi request reprint Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme
    David Bodensteiner
    Division of Hematology Oncology, University of Kansas Medical Center, Kansas City, Kansas 66205, USA
    Genet Med 10:353-8. 2008
    ....
  15. doi request reprint Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report
    Dominique P Germain
    Division of Medical Genetics, hôpital Raymond Poincaré AP HP, 92380 Garches, France
    Eur J Med Genet 53:111-2. 2010
    ..The decision to administer ERT during pregnancy should be made on an individual basis, considering the FD status and possible risks...
  16. ncbi request reprint [Interest and limits of determination of a-galactosidase A enzymatic activity in population at risk for Fabry disease.]
    Eric Caudron
    Groupe de Chimie Analytique de Paris Sud, EA 3343, Laboratoire de Chimie Analytique, Faculte de Pharmacie, 5, rue Jean Baptiste Clement, 92296 Chatenay Malabry, France
    Med Sci (Paris) 21:53-4. 2005
    ..The prevalence of Fabry disease is low in the regular population. However the determination of the alpha-galactosidase A activity is of interest in the populations at risk. double dagger...
  17. 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...
  18. 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...
  19. 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
    ....
  20. ncbi request reprint [Imaging mass spectrometry and direct analysis of globotriaosylceramide and galabiosylceramide in tissue.]
    Sandrine Roy
    Groupe de Chimie Analytique du Sud de Paris, EA 3343, Faculté de Pharmacie de Paris XI, 5, rue Jean Baptiste Clement, 92296 Chatenay Malabry Cedex, France
    Med Sci (Paris) 21:55-6. 2005
    ..But a new technology, imaging mass spectrometry, may be applied to the analysis of these metabolites in tissue of hemizygous patients with Fabry disease. Advantages and disavantadges of this technic are discussed. double dagger...
  21. ncbi request reprint [Quantification and speciation of globotriaosylceramide.]
    Sandrine Roy
    Groupe de Chimie Analytique du Sud de Paris, EA 3343, Faculté de Pharmacie de Paris XI, 5, rue Jen Baptiste Clément, 92296 Chatenay Malabry Cedex, France
    Med Sci (Paris) 21:51-2. 2005
    ..Quantification and speciation of this lipid may be performed by several technics (particularly by coupling separative techniques with tandem mass spectrometry) which are described and analysed. double dagger...
  22. doi request reprint Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study
    Albert A Hagege
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Department of Cardiology, University Paris Descartes, INSERM U 633, Paris, France
    Heart 97:131-6. 2011
    ..The prevalence of FD in patients with LVH of 13 mm or greater, screened using the leucocyte alpha-galactosidase A (α-gal A) activity test, a technique that is difficult to apply routinely, ranged from 0% to 6%...
  23. 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...
  24. 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
    ....
  25. 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...
  26. 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...
  27. 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
    ....
  28. pmc Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    William R Wilcox
    Cedars Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 75:65-74. 2004
    ..Thus, enzyme replacement therapy for 30-36 mo with agalsidase beta resulted in continuously decreased plasma GL-3 levels, sustained endothelial GL-3 clearance, stable kidney function, and a favorable safety profile...
  29. doi request reprint Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta
    Atul Mehta
    Mol Genet Metab 95:114-5. 2008
  30. ncbi request reprint Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
    Christine M Eng
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 8:539-48. 2006
    ....
  31. doi request reprint Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease
    J Edmond Wraith
    Royal Manchester Children s Hospital, Manchester, United Kingdom
    J Pediatr 152:563-70, 570.e1. 2008
    ....
  32. ncbi request reprint Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd SSB, Los Angeles, CA 90048, USA
    Mol Genet Metab 93:112-28. 2008
    ..Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy...
  33. ncbi request reprint Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
    Christiane Auray-Blais
    Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Que, Canada J1H 5N4
    Mol Genet Metab 93:331-40. 2008
    ..0001) and treatment (p = 0.0011). In conclusion, we studied 35 mutations in 110 children and adults with Fabry disease and found a significant correlation between the types of mutations and total Gb3 excretion in Fabry patients...
  34. ncbi request reprint Cystatin C as a marker of early changes of renal function in Fabry nephropathy
    Sandro Feriozzi
    Nephrology and Dialysis Unit, Ospedale Belcolle, Viterbo, Italy
    J Nephrol 20:437-43. 2007
    ..The use of cystatin C as a marker of glomerular filtration rate (GFR) was investigated in Fabry patients receiving ERT...
  35. ncbi request reprint Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Ann Intern Med 138:338-46. 2003
    ....
  36. ncbi request reprint Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease
    David Touboul
    Laboratoire de Spectrometrie de masse, Institut de Chimie des Substances Naturelles ICSN CNRS, av de la Terrasse, 91198, Gif sur Yvette Cedex, France
    Anal Bioanal Chem 382:1209-16. 2005
    ....
  37. ncbi request reprint [Current practice in Fabry disease: a comprehensive multidisciplinary approach]
    Dominique P Germain
    Presse Med 36:1S3-6. 2007
  38. ncbi request reprint Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease
    Dominique P Germain
    Clin Genet 68:93-5. 2005
  39. ncbi request reprint Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease
    Arnaud Delobel
    Laboratoire de Spectrometrie de masse, Institut de Chimie des Substances Naturelles, CNRS, Avenue de la Terrasse, 91198 Gif sur Yvette, Cedex, France
    J Mass Spectrom 41:50-8. 2006
    ..This method could be an interesting analytical tool for the biochemical investigation of (sphingo) lipid metabolism...
  40. ncbi request reprint [A new imaging technique as a diagnostic tool: mass spectrometry]
    David Touboul
    Institut de Chimie des Substances Naturelles, CNRS, Avenue de la Terrasse, Gif sur Yvette 91, France
    Presse Med 36:1S82-7. 2007
    ..The particular case of the Fabry disease is presented here in order to illustrate the present capabilities of this novel chemical imaging approach...