Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Abi-Wardé MT"'
Autor:
Baer S; Department of Neuropediatrics, ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, France. Electronic address: sarah.baer@chru-strasbourg.fr., Schalk A; Laboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals Strasbourg France, Strasbourg, France., Miguet M; Department of Genetics, Emile Muller Hospital, Mulhouse, France., Schaefer É; Clinical Genetics Unit, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg, France., El Chehadeh S; Clinical Genetics Unit, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg, France., Ginglinger E; Department of Genetics, Emile Muller Hospital, Mulhouse, France., de Saint Martin A; Department of Neuropediatrics, ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Abi Wardé MT; Department of Neuropediatrics, ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Laugel V; Department of Neuropediatrics, ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., de Feraudy Y; Department of Neuropediatrics, ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Gauer L; Epilepsy Unit 'Francis Rohmer,' ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Neurology Department, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Hirsch E; Epilepsy Unit 'Francis Rohmer,' ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Neurology Department, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Boulay C; Epilepsy Unit 'Francis Rohmer,' ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Neurology Department, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Department of Pediatrics, Émile Muller Hospital, Mulhouse, France., Bansept C; Department of Pediatrics, Émile Muller Hospital, Mulhouse, France., Bolocan A; Department of Pediatrics, Émile Muller Hospital, Mulhouse, France., Kitadinis I; Department of Pediatrics, Émile Muller Hospital, Mulhouse, France., Gouronc A; Laboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals Strasbourg France, Strasbourg, France., Gérard B; Laboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals Strasbourg France, Strasbourg, France., Piton A; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, France; Laboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals Strasbourg France, Strasbourg, France., Scheidecker S; Laboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals Strasbourg France, Strasbourg, France.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Oct; Vol. 159, pp. 16-25. Date of Electronic Publication: 2024 Jul 15.
Autor:
Alili JM; Pôle EPHP, AGEPS, AP-HP, Paris, France. jean-meidi.alili@aphp.fr.; Service Des Maladies Métaboliques, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015, Paris, France. jean-meidi.alili@aphp.fr., Berleur MP; Pôle EPHP, AGEPS, AP-HP, Paris, France., Husson MC; Pôle EPHP, AGEPS, AP-HP, Paris, France., Mention K; Metabolic Disease Reference Centre, Lille University Hospital, Lille, France.; G2M Network, MetabERN, Paris, France., Schiff M; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Arnoux JB; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Brassier A; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Guemman AS; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Grisel C; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Dubois S; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Abi-Wardé MT; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Broissand C; Deparment of Pharmacy, Necker's Children University Hospital, AP-HP, Paris, France., Servais A; Department of Nephrology, Necker's Children University Hospital, AP-HP, Paris, France., Dao M; Department of Nephrology, Necker's Children University Hospital, AP-HP, Paris, France., de Lonlay P; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 16; Vol. 17 (1), pp. 202. Date of Electronic Publication: 2022 May 16.
Autor:
Bérat CM; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Université de Paris, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France., Montealegre S; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France., Wiedemann A; Department of Pediatric Intensive Care, Reference Center of Inherited Metabolic Disorders, INSERM U1256, Nancy Hospital, Nancy, France., Nuzum MLC; Inserm U1151, Institut Necker Enfants-Malades, Paris, France., Blondel A; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France., Debruge H; Inserm U1151, Institut Necker Enfants-Malades, Paris, France., Cano A; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France., Chabrol B; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France., Hoebeke C; Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France., Polak M; Université de Paris, Paris, France.; Endocrinology Unit, Reference Center of Rare Endocrine Diseases of Growth and Development, Necker-Enfants-Malades, University hospital, APHP, Imagine Institute, Paris, France., Stoupa A; Université de Paris, Paris, France.; Endocrinology Unit, Reference Center of Rare Endocrine Diseases of Growth and Development, Necker-Enfants-Malades, University hospital, APHP, Imagine Institute, Paris, France., Feillet F; Department of Pediatric Intensive Care, Reference Center of Inherited Metabolic Disorders, INSERM U1256, Nancy Hospital, Nancy, France., Torre S; Competence Center of Inherited Metabolic Disorders, Rouen Hospital, Filière G2M, Rouen, France., Boddaert N; Université de Paris, Paris, France.; Paediatric Radiology Department, Necker-Enfants-Malades University hospital, APHP and INSERM U1163, Imagine Institute, Paris, France., Bruel H; Pediatrics Department, Le Havre Hospital, Le Havre, France., Barth M; Pediatrics Department, Angers Hospital, Angers, France., Damaj L; Pediatrics Department, Rennes Hospital, Rennes, France., Abi-Wardé MT; Pediatrics Department, Strasbourg Hospital, Strasbourg, France., Afenjar A; Reference Center of Cerebellar Malformations and Congenital Diseases, Trousseau Hospital, APHP, Paris, France., Benoist JF; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France., Madrange M; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France., Caccavelli L; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France., Renard P; Inserm U1151, Institut Necker Enfants-Malades, Paris, France., Hubas A; Genetics and Molecular Biology, Laboratoire de culture cellulaire, Hôpital Cochin, Paris, France., Nusbaum P; Genetics and Molecular Biology, Laboratoire de culture cellulaire, Hôpital Cochin, Paris, France., Pontoizeau C; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France., Gobin S; Genetics Department, Necker-Enfants-Malades University Hospital, APHP, Paris, France., van Endert P; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Université de Paris, Paris, France., Ottolenghi C; Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France., Maltret A; Cardiology Unit, Necker-Enfants-Malades University Hospital, APHP, Paris, France., de Lonlay P; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.; Université de Paris, Paris, France.; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Mar; Vol. 44 (2), pp. 415-425. Date of Electronic Publication: 2020 Sep 28.
Autor:
Abi-Wardé MT; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Roda C; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Arnoux JB; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Servais A; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France.; Department of Nephrology-Transplantation, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France., Habarou F; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France.; Metabolic Biochemistry, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France., Brassier A; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Pontoizeau C; Metabolic Biochemistry, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France., Barbier V; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Bayart M; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Leboeuf V; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Chadefaux-Vekemans B; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France.; Metabolic Biochemistry, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France., Dubois S; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Assoun M; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Belloche C; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France., Alili JM; Pharmaceutical Establishment of APHP, AGEPS, APHP, Paris, France., Husson MC; Pharmaceutical Establishment of APHP, AGEPS, APHP, Paris, France., Lesage F; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France.; Intensive Care Unit, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France., Dupic L; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France.; Intensive Care Unit, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France., Theuil B; Department of Child and Adolescent Psychiatry, Hospital Bichat Claude Bernard, APHP, University Denis Diderot Paris 7, Paris, France., Ottolenghi C; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France.; Metabolic Biochemistry, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France., de Lonlay P; Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France. pascale.delonlay@aphp.fr.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 Nov; Vol. 40 (6), pp. 783-792. Date of Electronic Publication: 2017 Sep 13.