Dominique P Germain

Pr. Dominique P Germain

MD, PhD

University of Versailles

Professor

Versailles | France

Dominique P Germain

Pr. Dominique P Germain

MD, PhD
Introduction

Primary Affiliation: University of Versailles - Versailles , France

Metrics

81

Publications

27

Profile Views

674

Reads

595

PubMed Central Citations

Top co-authors
Stephen Waldek
Stephen Waldek

Hope Hospital

15
William R Wilcox
William R Wilcox

Medical Genetics Institute

13
David G Warnock
David G Warnock

University of Alabama at Birmingham

12
Christoph Wanner
Christoph Wanner

University of Würzburg

12
Karelle Benistan
Karelle Benistan

INSERM U872 et Université Paris Descartes

10
Alberto Ortiz
Alberto Ortiz

School of Medicine

9
Gabor E Linthorst
Gabor E Linthorst

University of Amsterdam

7
Robert J Desnick
Robert J Desnick

Icahn School of Medicine at Mount Sinai

7
Daniel G Bichet
Daniel G Bichet

Université de Montréal

7
Maryam Banikazemi
Maryam Banikazemi

Mount Sinai School of Medicine of New York University

6

Publications

81Publications

674Reads

595PubMed Central Citations

Fabry disease revisited: Management and treatment recommendations for adult patients.

Mol Genet Metab 2018 Apr 28;123(4):416-427. Epub 2018 Feb 28.

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

View Article
April 2018
3 Reads
2.62 Impact Factor

Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy.

Mol Genet Metab 2018 Apr 11. Epub 2018 Apr 11.

University College London and Barts Heart Centre, London, United Kingdom.

View Article
April 2018
1 Read
2.62 Impact Factor

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

PLoS One 2017 27;12(7):e0181700. Epub 2017 Jul 27.

Service de Biochimie et Biologie Moléculaire Grand Est, Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

View Article
September 2017
23 Reads
1 PubMed Central Citation(source)
3.23 Impact Factor

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Genet Med 2017 08 19;19(8):909-917. Epub 2017 Jan 19.

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Service de Médecine Vasculaire et Centre de Référence des Maladies Vasculaires Rares, Paris, France.

View Article
August 2017
9 Reads
1 PubMed Central Citation(source)
7.33 Impact Factor

Clinical utility gene card for: Fabry disease - update 2016.

Eur J Hum Genet 2017 06 22;25(7):e1-e3. Epub 2017 Mar 22.

Division of Medical Genetics, University of Versailles-St Quentin en Yvelines, Paris Saclay University, Montigny, France.

View Article
June 2017
2 Reads
4.35 Impact Factor

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.

Mol Genet Metab Rep 2017 Jun 1;11:75-80. Epub 2016 Oct 1.

Neurology Department, Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina.

View Article
June 2017
7 Reads

Pseudoxanthoma elasticum.

Orphanet J Rare Dis 2017 05 10;12(1):85. Epub 2017 May 10.

Division of Medical Genetics, University of Versailles - Saint Quentin en Yvelines, Paris-Saclay University, 2 avenue de la source de la Bièvre, F-78180, Montigny, France.

View Article
May 2017
2 Reads
2 PubMed Central Citations(source)
3.36 Impact Factor

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

View Article
August 2016
17 Reads
17 PubMed Central Citations(source)
55.87 Impact Factor

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.

Ophthalmic Genet 2015 21;36(4):327-32. Epub 2014 Apr 21.

c Referral Center for Inherited Disorders of Connective Tissue, Division of Medical Genetics, Department of Paediatrics, CHU Raymond Poincare (AP-HP) , Garches , France , and.

View Article
July 2016
2 Reads
3 PubMed Central Citations(source)
1.23 Impact Factor

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

CNS Neurosci Ther 2016 07 28;22(7):568-76. Epub 2016 Mar 28.

Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy.

View Article
July 2016
8 Reads
4 PubMed Central Citations(source)
3.93 Impact Factor

Determinants of white matter hyperintensity burden in patients with Fabry disease.

Neurology 2016 May 20;86(20):1880-6. Epub 2016 Apr 20.

From the J. Philip Kistler Stroke Research Center, Department of Neurology (N.S.R., L.C., A.S.K., K.M.F.), and the Center for Human Genetic Research, Department of Neurology (N.S.R., D.R.A., V.C., K.B.S.), Massachusetts General Hospital, Boston; Neurogenetics Unit (C.M.L.), School of Medicine of Riberirao Preto, University of São Paulo, Brazil; Division of Medical Genetics (D.P.G.), University of Versailles-St Quentin en Yvelines Paris-Saclay University, France; Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN) (J.M.P.), Buenos Aires, Argentina; and Departments of Neuroradiology (G.A.H.) and Neurology (C.S., N.Ü.), Fabry Center for Interdisciplinary Therapy (FAZIT) (C.S., N.Ü.), University of Würzburg, Germany.

View Article
May 2016
14 Reads
1 PubMed Central Citation(source)
8.29 Impact Factor

Coronary CT angiography for chest pain in pseudoxanthoma elasticum and cardiac intervention management.

J Cardiovasc Comput Tomogr 2015 May-Jun;9(3):238-41. Epub 2015 Feb 19.

Cardiology Department, Ambroise Paré Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Centre de référence des Maladies Cardiaques Héréditaires, University of Versailles-Saint Quentin en Yvelines, UMR-EpReC, 9, Avenue Charles de Gaulle, Boulogne-Billancourt 92100, France.

View Article
February 2016
4 Reads
1 PubMed Central Citation(source)

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

Eur J Med Genet 2015 Dec 28;58(12):681-4. Epub 2015 Oct 28.

University of Versailles - St Quentin en Yvelines (UVSQ), Division of Medical Genetics, Montigny, France. Electronic address:

View Article
December 2015
6 Reads
1.49 Impact Factor

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Muscle Nerve 2015 Nov 14;52(5):728-35. Epub 2015 Sep 14.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.

View Article
November 2015
19 Reads
3 PubMed Central Citations(source)
2.28 Impact Factor

Adult patients with Fabry disease: what does the cardiologist need to know?

Heart 2015 Jun 11;101(12):916-8. Epub 2015 Mar 11.

Division of Medical Genetics and U1179 UVSQ-INSERM, University of Versailles, Montigny, France.

View Article
June 2015
7 Reads
1 PubMed Central Citation(source)
5.59 Impact Factor

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

J Med Genet 2015 May 20;52(5):353-8. Epub 2015 Mar 20.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

View Article
May 2015
5 Reads
25 PubMed Central Citations(source)
6.34 Impact Factor

Raynaud's phenomenon associated with Fabry disease.

J Inherit Metab Dis 2015 Mar 16;38(2):367-8. Epub 2014 Dec 16.

University of Versailles, UFR des Sciences de la Santé Simone Veil, UMR 1179, Montigny, 78180, France,

View Article
March 2015
1 Read
1 PubMed Central Citation(source)
3.37 Impact Factor

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

Mol Genet Metab 2015 Feb 9;114(2):248-58. Epub 2014 Nov 9.

Departamento de Genética, Faculdade de Medicina, Universidade do Porto, 4200-319 Porto, Portugal; Serviço de Nefrologia, Centro Hospitalar de São João, 4200-319 Porto, Portugal; Consulta de Genética Médica, Centro Hospitalar de São João, 4200-319 Porto, Portugal. Electronic address:

View Article
February 2015
9 Reads
9 PubMed Central Citations(source)
2.62 Impact Factor

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Clin Chim Acta 2015 Jan 19;438:195-204. Epub 2014 Aug 19.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre hospitalier universitaire de Sherbrooke, 3001, 12(th) Avenue North, Sherbrooke, QCJ1H 5N4, Canada.

View Article
January 2015
22 Reads
4 PubMed Central Citations(source)
2.82 Impact Factor

Neurologic manifestations of inherited disorders of connective tissue.

Handb Clin Neurol 2014 ;119:565-76

University of Versailles - St Quentin en Yvelines, Versailles, France; Division of Medical Genetics, National Referral Center for Fabry Disease and Inherited Disorders of Connective Tissue, CHU Raymond Poincaré, Garches, France.

View Article
April 2014
4 Reads
7 PubMed Central Citations(source)

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

PLoS One 2013 5;8(3):e57631. Epub 2013 Mar 5.

University of Cape Town, Institute of Infectious Disease and Molecular Medicine, Division of Medical Biochemistry, Cape Town, South Africa.

View Article
December 2013
29 Reads
5 PubMed Central Citations(source)
3.23 Impact Factor

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.

Orphanet J Rare Dis 2012 Nov 24;7:91. Epub 2012 Nov 24.

Division of Medical Genetics, Hôpital Raymond Poincaré (AP-HP), University of Versailles - St Quentin en Yvelines (UVSQ), Garches, 92380, France.

View Article
November 2012
14 Reads
15 PubMed Central Citations(source)
3.36 Impact Factor

Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.

Virchows Arch 2012 Jun 2;460(6):637-49. Epub 2012 May 2.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Inserm U970, Université Paris Descartes, Paris, France.

View Article
June 2012
6 Reads
2.65 Impact Factor

Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.

Mol Genet Metab 2012 Mar 14;105(3):443-9. Epub 2011 Dec 14.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

View Article
March 2012
5 Reads
1 PubMed Central Citation(source)
2.62 Impact Factor

Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease.

Eur J Prev Cardiol 2012 Feb 4;19(1):43-54. Epub 2011 Mar 4.

University of Versailles-Saint Quentin en Yvelines, Division of Medical Genetics, Hôpital Raymond Poincaré (AP-HP), Garches, France.

View Article
February 2012
4 Reads
1 PubMed Central Citation(source)
2.67 Impact Factor

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Mol Genet Metab 2011 Sep-Oct;104(1-2):144-8. Epub 2011 Jul 23.

Dept. of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

View Article
January 2012
6 Reads
10 PubMed Central Citations(source)
2.62 Impact Factor

Sudden death associated to vascular Ehlers-Danlos syndrome. A case report.

Leg Med (Tokyo) 2011 May 26;13(3):145-7. Epub 2011 Jan 26.

Department of Forensic Medicine and Pathology, University Hospital R. Poincaré (AP-HP, UVSQ), 104 R. Poincaré Boulevard, F-92380 Garches, France.

View Article
May 2011
7 Reads
1.44 Impact Factor

Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study.

Heart 2011 Jan 9;97(2):131-6. Epub 2010 Nov 9.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Department of Cardiology, University Paris Descartes, INSERM U 633, Paris, France.

View Article
January 2011
12 Reads
11 PubMed Central Citations(source)
5.59 Impact Factor

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

Mol Genet Metab 2011 Jan 30;102(1):99-102. Epub 2010 Nov 30.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.

View Article
January 2011
4 Reads
11 PubMed Central Citations(source)
2.62 Impact Factor

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry.

Clin J Am Soc Nephrol 2010 Dec 2;5(12):2220-8. Epub 2010 Sep 2.

Department of Medicine, Division of Nephrology, University of Würzburg, Würzburg, Germany.

View Article
December 2010
3 Reads
24 PubMed Central Citations(source)
4.61 Impact Factor

Fabry disease.

Orphanet J Rare Dis 2010 Nov 22;5:30. Epub 2010 Nov 22.

University of Versailles - St Quentin en Yvelines, Faculté de Médecine Paris - Ile de France Ouest (PIFO), 78035 Versailles, France.

View Article
November 2010
7 Reads
107 PubMed Central Citations(source)
3.36 Impact Factor

Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report.

Eur J Med Genet 2010 Mar-Apr;53(2):111-2. Epub 2010 Jan 1.

Division of Medical Genetics, Hôpital Raymond Poincaré (AP-HP), 92380 Garches, France.

View Article
July 2010
3 Reads
1 PubMed Central Citation(source)
1.49 Impact Factor

Enzyme replacement therapy for Fabry's disease.

Lancet 2010 May;375(9725):1523; author reply 1523-4

View Article
May 2010
5 Reads
4 PubMed Central Citations(source)
45.22 Impact Factor

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.

Nephrol Dial Transplant 2010 Mar 21;25(3):769-75. Epub 2009 Oct 21.

Unidad de Dialisis, Fundación Jiménez Díaz, Universidad Autonoma de Madrid, Madrid, Spain.

View Article
March 2010
5 Reads
18 PubMed Central Citations(source)
3.58 Impact Factor

A validated disease severity scoring system for Fabry disease.

Mol Genet Metab 2010 Mar 30;99(3):283-90. Epub 2009 Oct 30.

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45220, USA.

View Article
March 2010
8 Reads
12 PubMed Central Citations(source)
2.62 Impact Factor

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Pediatr Res 2008 Nov;64(5):550-5

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

View Article
November 2008
15 Reads
33 PubMed Central Citations(source)
2.31 Impact Factor

Fabry disease: the need to stratify patient populations to better understand the outcome of enzyme replacement therapy.

Clin Ther 2007 ;29 Suppl A:S17-8

Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif (syndromes d'Ehlers-Danlos et pseudoxanthome élastique), Assistance Publique-Hôpitaux de Paris, Paris, France.

View Article
June 2008
1 Read
5 PubMed Central Citations(source)
2.73 Impact Factor

Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.

Genet Med 2008 May;10(5):353-8

Division of Hematology/Oncology, University of Kansas Medical Center, Kansas City, Kansas 66205, USA.

View Article
May 2008
6 Reads
13 PubMed Central Citations(source)
7.33 Impact Factor

Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.

J Pediatr 2008 Apr 3;152(4):563-70, 570.e1. Epub 2007 Dec 3.

Royal Manchester Children's Hospital, Manchester, United Kingdom.

View Article
April 2008
2 Reads
2 PubMed Central Citations(source)
3.79 Impact Factor

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Mol Genet Metab 2008 Mar 26;93(3):331-40. Epub 2007 Nov 26.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Que., Canada J1H 5N4.

View Article
March 2008
4 Reads
12 PubMed Central Citations(source)
2.62 Impact Factor

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Mol Genet Metab 2008 Feb 26;93(2):112-28. Epub 2007 Nov 26.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd. SSB, Los Angeles, CA 90048, USA.

View Article
February 2008
12 Reads
2 PubMed Central Citations(source)
2.62 Impact Factor

Cystatin C as a marker of early changes of renal function in Fabry nephropathy.

J Nephrol 2007 Jul-Aug;20(4):437-43

Nephrology and Dialysis Unit, Ospedale Belcolle, Viterbo, Italy.

View Article
January 2008
5 Reads
3 PubMed Central Citations(source)
2.00 Impact Factor

Ehlers-Danlos syndrome type IV.

Orphanet J Rare Dis 2007 Jul 19;2:32. Epub 2007 Jul 19.

Centre de référence pour la maladie de Fabry et les maladies héréditaires du tissu conjonctif (syndromes d'Ehlers-Danlos, pseudoxanthome élastique, mucopolysaccharidoses), Assistance Publique-Hôpitaux de Paris, Paris, France.

View Article
July 2007
2 Reads
39 PubMed Central Citations(source)
3.36 Impact Factor

[Genetics of Fabry disease: diagnostic and therapeutic implications].

Presse Med 2007 Mar;36 Spec No 1:1S14-9

Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif (syndromes d'Ehlers-Danlos et pseudoxanthome élastique), Assistance Publique--Hôpitaux de Paris, Paris (75), France.

View Article
March 2007
1 Read
1 PubMed Central Citation(source)
1.17 Impact Factor

[Laboratory diagnosis of Fabry disease: historical perspectives and recent breakthroughs].

Presse Med 2007 Mar;36 Spec No 1:1S76-81

Groupe de Chimie Analytique de Paris-Sud, EA 4041-IFR 141, Faculté de Pharmacie Paris XI, Châtenay-Malabry, France.

View Article
March 2007
16 Reads
1.17 Impact Factor

[Current practice in Fabry disease: a comprehensive multidisciplinary approach].

Presse Med 2007 Mar;36 Spec No 1:1S3-6

View Article
March 2007
1 Read
1 PubMed Central Citation(source)
1.17 Impact Factor

[A new imaging technique as a diagnostic tool: mass spectrometry].

Presse Med 2007 Mar;36 Spec No 1:1S82-7

Institut de Chimie des Substances Naturelles, CNRS, Avenue de la Terrasse, Gif-sur-Yvette (91), France.

View Article
March 2007
3 Reads
1 PubMed Central Citation(source)
1.17 Impact Factor

[Inherited metabolic cardiomyopathies].

Presse Med 2007 Mar;36 Spec No 1:1S48-54

Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif (syndromes d'Ehlers-Danlos et pseudoxanthome elastique), Assistance Publique-Hôpitaux de Paris, Paris (75), France.

View Article
March 2007
21 Reads
1.17 Impact Factor

Chiari type I malformation in four unrelated patients affected with Fabry disease.

Eur J Med Genet 2006 Sep-Oct;49(5):419-25. Epub 2006 Feb 9.

Assistance Publique - Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France.

View Article
November 2006
2 Reads
1 PubMed Central Citation(source)
1.49 Impact Factor

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

Genet Med 2006 Sep;8(9):539-48

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

View Article
September 2006
9 Reads
1 PubMed Central Citation(source)
7.33 Impact Factor

The vascular Ehlers-Danlos syndrome.

Curr Treat Options Cardiovasc Med 2006 Apr;8(2):121-7

Clinical Genetics Unit, Hôpital Européen Georges Pompidou, 20 rue Leblanc, Paris 75015, France.

View Article
April 2006
8 Reads
4 PubMed Central Citations(source)

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

J Mass Spectrom 2006 Jan;41(1):50-8

Laboratoire de Spectrométrie de Masse, Institut de Chimie des Substances Naturelles, CNRS, Avenue de la Terrasse, 91198 Gif-sur-Yvette, Cedex, France.

View Article
January 2006
20 Reads
1 PubMed Central Citation(source)
2.38 Impact Factor

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

Anal Bioanal Chem 2005 Jul 16;382(5):1209-16. Epub 2005 Jun 16.

Laboratoire de Spectrométrie de Masse, Institut de Chimie des Substances Naturelles (ICSN-CNRS), Av. de la Terrasse, 91198, Gif-sur-Yvette Cedex, France.

View Article
July 2005
15 Reads
6 PubMed Central Citations(source)
3.44 Impact Factor

Vascular Ehlers-Danlos syndrome.

Ann Genet 2004 Jan-Mar;47(1):1-9

Clinical Genetics Unit, Hôpital Européen Georges-Pompidou, 20, rue Leblanc, 75015, Paris, France.

View Article
December 2004
1 Read
16 PubMed Central Citations(source)

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

Am J Hum Genet 2004 Jul 20;75(1):65-74. Epub 2004 May 20.

Cedars-Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA.

View Article
July 2004
7 Reads
2 PubMed Central Citations(source)
10.93 Impact Factor

Increased carotid wall stress in vascular Ehlers-Danlos syndrome.

Circulation 2004 Mar 8;109(12):1530-5. Epub 2004 Mar 8.

Department of Pharmacology and INSERM EMI 0107, Hôpital Européen Georges Pompidou, Paris, France.

View Article
March 2004
7 Reads
11 PubMed Central Citations(source)
14.43 Impact Factor

Arterial remodeling and stiffness in patients with pseudoxanthoma elasticum.

Arterioscler Thromb Vasc Biol 2003 May 20;23(5):836-41. Epub 2003 Mar 20.

Service de Pharmacologie et INSERM EMI 0107, Hôpital Européen Georges Pompidou, Paris, France.

View Article
May 2003
1 Read
11 PubMed Central Citations(source)
6.00 Impact Factor

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

Ann Intern Med 2003 Feb;138(4):338-46

Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA.

View Article
February 2003
3 Reads
1 PubMed Central Citation(source)
17.81 Impact Factor

[Lysosomes and lysosomal storage diseases].

J Soc Biol 2002 ;196(2):127-34

Département de Génétique, Hôpital Européen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France.

View Article
November 2002
10 Reads
1 PubMed Central Citation(source)

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

J Soc Biol 2002 ;196(2):183-90

Unité de Génétique Clinique, Hôpital Européen Georges Pompidou, 20, rue Leblanc, 75015 Paris.

View Article
November 2002
3 Reads
3 PubMed Central Citations(source)

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

BMC Med Genet 2002 Oct 11;3:10. Epub 2002 Oct 11.

Department of Genetics, Hôpital Européen Georges Pompidou, 75015 Paris, France.

View Article
October 2002
3 Reads
15 PubMed Central Citations(source)
2.08 Impact Factor

Fabry disease: recent advances in enzyme replacement therapy.

Expert Opin Investig Drugs 2002 Oct;11(10):1467-76

Department of Genetics, Hôpital Européen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France.

View Article
October 2002
2 Reads
5 PubMed Central Citations(source)
5.53 Impact Factor

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

Mol Med 2002 Jun;8(6):306-12

Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France.

View Article
June 2002
1 Read
8 PubMed Central Citations(source)
4.51 Impact Factor

Clinical and genetic features of vascular Ehlers-Danlos syndrome.

Ann Vasc Surg 2002 May 21;16(3):391-7. Epub 2002 May 21.

Unité de Génétique Clinique, Hôpital Européen Georges Pompidou, Paris, France.

View Article
May 2002
1 Read
16 PubMed Central Citations(source)
1.03 Impact Factor
Top co-authors
Stephen Waldek
Stephen Waldek

Hope Hospital

15
William R Wilcox
William R Wilcox

Medical Genetics Institute

13
David G Warnock
David G Warnock

University of Alabama at Birmingham

12
Christoph Wanner
Christoph Wanner

University of Würzburg

12
Karelle Benistan
Karelle Benistan

INSERM U872 et Université Paris Descartes

10
Alberto Ortiz
Alberto Ortiz

School of Medicine

9
Gabor E Linthorst
Gabor E Linthorst

University of Amsterdam

7
Robert J Desnick
Robert J Desnick

Icahn School of Medicine at Mount Sinai

7
Daniel G Bichet
Daniel G Bichet

Université de Montréal

7
Maryam Banikazemi
Maryam Banikazemi

Mount Sinai School of Medicine of New York University

6