Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Lacombe D."'
Autor:
Soilly, AL, Robert-Viard, C, Besse, C, Bruel, AL, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D
Publikováno v:
BMC Health Services Research; 4/21/2023, Vol. 23 Issue 1, p1-11, 11p, 1 Diagram, 1 Chart, 2 Graphs
Autor:
Mauhin W; Internal Medicine, Reference Center for Lysosomal Diseases (CRML), GH Diaconesses Croix Saint-Simon, Paris, France., Guffon N; Reference Center for Inherited Metabolic Diseases, Hospices Civils de Lyon, Bron, France., Vanier MT; Laboratory Gillet-Mérieux, Centre de Biologie Et de Pathologie Est, INSERM U820, Hospices Civils de Lyon, Bron, France., Froissart R; Biochemical and Molecular Biology Department, Centre de Biologie Et de Pathologie Est, Hospices Civils de Lyon, Bron, France., Cano A; Paediatric Neurology, Reference Center for Inherited Metabolic Diseases, CHU La Timone Enfants, Marseille, France., Douillard C; Endocrinology, Diabetology, Metabolism Department, Reference Centre for Inherited Metabolic Diseases, Lille University Hospital, Lille, France., Lavigne C; Internal Medicine and Clinical Immunology, Competence Centre for Inherited Metabolic Diseases, Angers University Hospital, Angers, France., Héron B; Pediatric Neurology, Reference Center for Lysosomal Diseases, Armand Trousseau-La Roche Guyon Hospital, Assistance Publique-Hôpitaux de Paris, Fédération Hospitalo-Universitaire, Sorbonne-Université, I2-D2, Paris, France., Belmatoug N; Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique Hôpitaux de Paris Nord, Université Paris Cité, Paris, France., Uzunhan Y; Reference Center for Rare Pulmonary Diseases, Avicenne Hospital, Université Sorbonne Paris Nord, INSERM U1272, Assistance Publique-Hôpitaux de Paris, PneumologyBobigny, France., Lacombe D; Medical Genetics Unit, University Hospital of Bordeaux, INSERM U1211, Bordeaux, France., Levade T; Cancer Research Center of Toulouse (CRCT) and Clinical Biochemistry Laboratory, Reference Center for Inherited Metabolic Diseases, INSERM UMR1037 Paul Sabatier University Federative Institute of Biology, CHU Toulouse, Toulouse, France., Duvivier A; Sanofi, Gentilly, France., Pulikottil-Jacob R; Sanofi, Reading, UK., Laredo F; Sanofi, São Paulo, Brazil., Pichard S; Reference Center for Inherited Metabolic Diseases, Hôpital Necker Enfants Malades, Paris, 75015, France., Lidove O; Internal Medicine, Reference Center for Lysosomal Diseases (CRML), GH Diaconesses Croix Saint-Simon, Paris, France. OLidove@hopital-dcss.org.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 05; Vol. 19 (1), pp. 289. Date of Electronic Publication: 2024 Aug 05.
Autor:
Saesen R; Clinical Pharmacology and Pharmacotherapy Research Unit, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium. robbe.saesen@eortc.org.; European Organisation for Research and Treatment of Cancer (EORTC), Avenue E. Mounier 83, 1200, Brussels, Belgium. robbe.saesen@eortc.org., Depreytere K; Clinical Pharmacology and Pharmacotherapy Research Unit, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium., Krupianskaya K; Clinical Pharmacology and Pharmacotherapy Research Unit, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium., Langeweg J; Clinical Pharmacology and Pharmacotherapy Research Unit, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium., Verheecke J; Clinical Pharmacology and Pharmacotherapy Research Unit, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium., Lacombe D; European Organisation for Research and Treatment of Cancer (EORTC), Avenue E. Mounier 83, 1200, Brussels, Belgium., Huys I; Clinical Pharmacology and Pharmacotherapy Research Unit, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium.
Publikováno v:
BMC medical research methodology [BMC Med Res Methodol] 2023 Jun 24; Vol. 23 (1), pp. 148. Date of Electronic Publication: 2023 Jun 24.
Autor:
Guffon N; Reference Center for Inherited Metabolic Disorders of Lyon, (CERLYMM), Hospices Civils de Lyon, 69677, Bron, France. nathalie.guffon-fouilhoux@chu-lyon.fr., Genevaz D; Vaincre Les Maladies Lysosomales, 91300, Massy, France., Lacombe D; Medical Genetics Unit, University Hospital of Bordeaux, INSERM U1211, 33076, Bordeaux, France., Le Peillet Feuillet E; Sanofi, 94250, Gentilly, France., Bausson P; Study Department, AplusA Company, 92641, Boulogne Billancourt, France., Noel E; University Hospital of Strasbourg, BP 426, 67100, Strasbourg, France., Maillot F; Department of Internal Medicine, Regional University Hospital of Tours, 37000, Tours, France., Belmatoug N; Reference Center of Lysosomal Diseases, Beaujon Hospital, 92110, Clichy, France., Jaussaud R; Department of Internal Medicine and Clinical Immunology, Nancy University Hospital, 54500, Vandoeuvre-Les-Nancy, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 23; Vol. 17 (1), pp. 448. Date of Electronic Publication: 2022 Dec 23.
Autor:
Messiaen C; Banque Nationale de Données Maladies Rares, DSI-WIND, APHP, Paris, France. claude.messiaen@aphp.fr., Racine C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Dijon, Dijon, France., Khatim A; Banque Nationale de Données Maladies Rares, DSI-WIND, APHP, Paris, France., Soussand L; Banque Nationale de Données Maladies Rares, DSI-WIND, APHP, Paris, France., Odent S; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital Sud, CHU de Rennes, Rennes, France., Lacombe D; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Bordeaux, et INSERM U1211, Bordeaux, France., Manouvrier S; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Lille, EA 7364 RADEME Maladies Rares du Développement et du Métabolisme, Université Lille, Lille, France., Edery P; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital Femme-Mère-Enfant Hospices Civils de Lyon, Bron, France., Sigaudy S; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Département de Génétique Médicale, CHU de Marseille - Hôpital de La Timone, Marseille, France., Geneviève D; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Montpellier, Montpellier, France., Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Dijon, Dijon, France.; Filière AnDDI-Rares, CHU Dijon, Dijon, France.; INSERM UMR1231 et FHU TRANSLAD, Université de Bourgogne, Dijon, France., Pasquier L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital Sud, CHU de Rennes, Rennes, France., Petit F; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Lille, EA 7364 RADEME Maladies Rares du Développement et du Métabolisme, Université Lille, Lille, France., Rossi M; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital Femme-Mère-Enfant Hospices Civils de Lyon, Bron, France., Willems M; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Montpellier, Montpellier, France., Attié-Bitach T; Hôpital Necker-Enfants Malades, Paris, France., Roux-Levy PH; INSERM UMR1231 et FHU TRANSLAD, Université de Bourgogne, Dijon, France., Demougeot L; Filière AnDDI-Rares, CHU Dijon, Dijon, France., Slama LB; Filière AnDDI-Rares, CHU Dijon, Dijon, France.; Hôpital Necker-Enfants Malades, Paris, France., Landais P; Service de Biostatistique, Epidémiologie, Santé Publique et d'Information Médicale, CHU de Nîmes, Faculté de Médecine Montpellier Nîmes, Nîmes, France., Jannot AS; Banque Nationale de Données Maladies Rares, DSI-WIND, APHP, Paris, France.; AP-HP. Centre - Université de Paris, Paris, France., Binquet C; Inserm, CIC1432, module épidémiologie clinique, Dijon, France.; CHU Dijon-Bourgogne, Centre d'Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, Dijon, France., Sandrin A; Banque Nationale de Données Maladies Rares, DSI-WIND, APHP, Paris, France., Verloes A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, AP-HP-Nord-Université de Paris, Hôpital Robert Debré, Department of Medical Genetics and INSERM UMR 1141, Paris, France., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Dijon, Dijon, France. laurence.faivre@chu-dijon.fr.; Filière AnDDI-Rares, CHU Dijon, Dijon, France. laurence.faivre@chu-dijon.fr.; INSERM UMR1231 et FHU TRANSLAD, Université de Bourgogne, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Filière AnDDI-Rares, Hôpital D'Enfants, CHU Dijon, 14 rue Gaffarel, Dijon, France. laurence.faivre@chu-dijon.fr.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Aug 04; Vol. 16 (1), pp. 345. Date of Electronic Publication: 2021 Aug 04.
Autor:
Trimouille A; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France., Marguet F; Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, Department of Pathology, F76000, Rouen, France., Sauvestre F; Department of Pathology, Bordeaux University Hospital, Bordeaux, France., Lasseaux E; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France., Pelluard F; Department of Pathology, Bordeaux University Hospital, Bordeaux, France., Martin-Négrier ML; Department of Pathology, Bordeaux University Hospital, Bordeaux, France., Plaisant C; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France., Rooryck C; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France., Lacombe D; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France., Arveiler B; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France., Boespflug-Tanguy O; INSERM UMR1141 Paris Diderot University, APHP Child neurology and Metabolic Department, Reference Centre for Leukodystrophies (LEUKOFRANCE -ERN-RND)- Robert-Debré hospital, Paris, France., Naudion S; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France., Laquerrière A; Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, Department of Pathology, F76000, Rouen, France. annie.laquerriere@chu-rouen.fr.; Pathology Laboratory, Pavillon Jacques Delarue,CHR, 1 rue de Germont, 76031, Rouen, Cedex, France. annie.laquerriere@chu-rouen.fr.
Publikováno v:
Acta neuropathologica communications [Acta Neuropathol Commun] 2020 Apr 15; Vol. 8 (1), pp. 48. Date of Electronic Publication: 2020 Apr 15.
Autor:
Noël E; Strasbourg University Hospital, Strasbourg, France. esther.noel@chru-strasbourg.fr., Dussol B; Conception Hospital, Marseille, France., Lacombe D; Bordeaux University Hospital, INSERM U1211, Bordeaux University, Bordeaux, France., Bedreddine N; Association des Patients de la Maladie de Fabry (APMF), Marsannay la Côte, France., Fouilhoux A; Lyon University Hospital - Lyon Civil Hospital, Lyon, France., Ronco P; Tenon Hospital, Paris, France., Genevaz D; Vaincre les Maladies Lysosomales (VML), Massy, France., Bekri S; Rouen University Hospital, Rouen, France., Hagège A; Georges Pompidou European Hospital, Paris, France., Dupuis-Siméon F; Amicus Therapeutics, La Défense, France., Derrien Ansquer V; A+A Research, Lyon, France., Germain DP; French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France., Lidove O; La Croix St Simon Hospital, Paris, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Dec 04; Vol. 14 (1), pp. 284. Date of Electronic Publication: 2019 Dec 04.
Autor:
Papaxanthos-Roche A; 1Reproductive biology laboratory-CECOS, Centre Aliénor d'Aquitaine, Hôpital Pellegrin CHU de Bordeaux, F-33000 Bordeaux, France., Maillard A; 2Methodology and data management centre, USMR Unit, CHU de Bordeaux, F-33000 Bordeaux, France., Chansel-Debordeaux L; 1Reproductive biology laboratory-CECOS, Centre Aliénor d'Aquitaine, Hôpital Pellegrin CHU de Bordeaux, F-33000 Bordeaux, France., Albert M; Reproductive biology unit, Centre Hospitalier Intercommunal Poissy/St-Germain-en-Laye, F-78300 Poissy, France.; 4UFR Université de Versailles St Quentin-en-Yvelines, F-78000 Versailles, France., Patrat C; 5Histology, embriology, reproductive biology unit, Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, F-75014 Paris, France., Lidove O; Internal medicine department, Hôpital La Croix St-Simon, F-75020 Paris, France.; 7Sorbonne Universités UPMC, F-75005 Paris, France.; 8INSERM CNRS, Centre de recherche en Biologie, GH Pitié Salpêtriere, F-75013 Paris, France., Germain DP; French Reference Centre for Fabry disease, Division of Medical Genetics Unit, CHU Raymond Poincaré, F-92380 Garches, France.; Inserm U1179, F-78180 Montigny-le-Bretonneux, France., Perez P; 2Methodology and data management centre, USMR Unit, CHU de Bordeaux, F-33000 Bordeaux, France., Lacombe D; 11Medical Genetics Departement, CHU de Bordeaux, INSERM U1211, F-33076 Bordeaux Cedex, France.
Publikováno v:
Basic and clinical andrology [Basic Clin Androl] 2019 May 15; Vol. 29, pp. 7. Date of Electronic Publication: 2019 May 15 (Print Publication: 2019).
Autor:
Mauhin W; Sorbonne Université, INSERM, UMR 974, Centre of Research in Myology, Association Institut de Myologie, Pitié-Salpêtrière University Hospital, 75013, Paris, France. wladimir.mauhin@aphp.fr., Lidove O; Sorbonne Université, INSERM, UMR 974, Centre of Research in Myology, Association Institut de Myologie, Pitié-Salpêtrière University Hospital, 75013, Paris, France.; Internal Medicine and Rheumatology Department, Diaconesses-Croix Saint Simon Hospital Group, Paris, France., Amelin D; Sorbonne Université, INSERM, UMR 974, Centre of Research in Myology, Association Institut de Myologie, Pitié-Salpêtrière University Hospital, 75013, Paris, France., Lamari F; Metabolic Biochemistry Department, Pitié Salpêtrière University Hospital, AP-HP, Paris, France.; GRC13-Neurometabolisme- Sorbonne Universités UPMC, Paris 06, Paris, France., Caillaud C; Biochemistry, Metabolomic and Proteomic Department, Necker Enfants Malades University Hospital, AP-HP, Paris, France.; INSERM U1151, Institute Necker Enfants Malades, Paris Descartes University, Paris, France., Mingozzi F; Sorbonne Université, INSERM, UMR 974, Centre of Research in Myology, Association Institut de Myologie, Pitié-Salpêtrière University Hospital, 75013, Paris, France., Dzangué-Tchoupou G; Sorbonne Université, INSERM, UMR 974, Centre of Research in Myology, Association Institut de Myologie, Pitié-Salpêtrière University Hospital, 75013, Paris, France., Arouche-Delaperche L; Sorbonne Université, INSERM, UMR 974, Centre of Research in Myology, Association Institut de Myologie, Pitié-Salpêtrière University Hospital, 75013, Paris, France., Douillard C; Reference Center for Inborn Metabolic diseases, Jeanne de Flandres Hospital, Lille, France., Dussol B; Nephrology Department, Aix Marseille Université et Centre d'Investigation Clinique 1409, INSERM/AMU/AP-HM, Marseille, France., Leguy-Seguin V; Internal Medicine and Clinical Immunology Department, Francois Mitterrand Hospital, Dijon, France., D'Halluin P; Nephrology and Clinical Immunology Department, Tours University Hospital, François Rabelais University, Tours, France., Noel E; Internal Medicine Department, Strasbourg University Hospital, Strasbourg, France., Zenone T; Internal Medicine Department, Valence Hospital, Valence, France., Matignon M; Nephrology and Renal Transplantation Department, Institut Francilien de Recherche en Néphrologie et Transplantation (IFRNT), Henri-Mondor/Albert-Chenevier University Hospital, APHP, Créteil, France.; University of Paris-Est-Créteil (UPEC), DHU (Département Hospitalo-Universitaire) VIC (Virus-Immunité-Cancer), IMRB (Institut Mondor de Recherche Biomédicale), Team 21, INSERM U 955, Créteil, France., Maillot F; Internal Medicine Department, Tours University Hospital, University of Tours, UMR INSERM 1253, Tours, France., Ly KH; Internal Medicine Department, Dupuytren University Hospital, Limoges, France., Besson G; Neurology Department, Grenoble University Hospital, Grenoble, France., Willems M; Medical Genetics and Rare Diseases Department, Montpellier University Hospital, Montpellier, France., Labombarda F; Cardiology Department, Caen University Hospital, Caen, France., Masseau A; Internal Medicine Department, Hôtel-Dieu University Hospital, Nantes, France., Lavigne C; Internal Medicine and Vascular Diseases Department, Angers University Hospital, Angers, France., Froissart R; Laboratory for Inborn Errors of Metabolism, East Hospital, Hospices Civils de Lyon, Bron, France., Lacombe D; Medical Genetics Department, CHU Bordeaux, INSERM U1211, Bordeaux University, Bordeaux, France., Ziza JM; Internal Medicine and Rheumatology Department, Diaconesses-Croix Saint Simon Hospital Group, Paris, France., Hachulla E; Internal Medicine Department, Huriez Hospital, University of Lille, 59037, Lille, France., Benveniste O; Sorbonne Université, INSERM, UMR 974, Centre of Research in Myology, Association Institut de Myologie, Pitié-Salpêtrière University Hospital, 75013, Paris, France.; Internal Medicine and Clinical Immunology Department, Pitié-Salpêtrière University Hospital, DHU I2B, AP-HP, Paris, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jul 31; Vol. 13 (1), pp. 127. Date of Electronic Publication: 2018 Jul 31.
Autor:
Curie A; Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France. aurorecurie@yahoo.fr., Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Feb 14; Vol. 9, pp. 25. Date of Electronic Publication: 2014 Feb 14.