Research Topics
| Dominique P GermainSummaryCountry: France Publications
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Publications
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...- [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... - [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... - 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... - [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.. - [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.. - [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.... - 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 - [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... - [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.... - [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 diseaseDominique 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....- 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... 
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzymeDavid Bodensteiner
Division of Hematology Oncology, University of Kansas Medical Center, Kansas City, Kansas 66205, USA
Genet Med 10:353-8. 2008....- Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case reportDominique 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... - [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... - [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... - 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... - 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.... - [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... - [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... - Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS studyAlbert 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%... - 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... - 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.... - 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... - 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... - [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.... - Long-term safety and efficacy of enzyme replacement therapy for Fabry diseaseWilliam 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... - Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase betaAtul Mehta
Mol Genet Metab 95:114-5. 2008 - Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine 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.... - Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry diseaseJ Edmond Wraith
Royal Manchester Children s Hospital, Manchester, United Kingdom
J Pediatr 152:563-70, 570.e1. 2008.... - Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam 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... - Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry diseaseChristiane 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... - Cystatin C as a marker of early changes of renal function in Fabry nephropathySandro 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... - Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapyRobert 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.... - Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry diseaseDavid Touboul
, 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.... - [Current practice in Fabry disease: a comprehensive multidisciplinary approach]Dominique P Germain
Presse Med 36:1S3-6. 2007 - Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry diseaseDominique P Germain
Clin Genet 68:93-5. 2005 - Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry diseaseArnaud Delobel
, 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... - [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...