Zobrazeno 1 - 10
of 23
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.
Publikováno v:
BMC Oral Health; 3/21/2024, Vol. 24 Issue 1, p1-8, 8p
Autor:
Duarte, Mariane Bernardo, Medeiros, Bianca Zampiroli, da Silva Lemos, Isabela, da Silva, Guilherme Lodetti, Alano, Carolina Giassi, Dondossola, Eduardo Ronconi, Torres, Carolina Antunes, Effting, Pauline Souza, Rico, Eduardo Pacheco, Streck, Emilio Luiz
Publikováno v:
Metabolic Brain Disease; Aug2023, Vol. 38 Issue 6, p2105-2114, 10p
Autor:
Leonardo Lujan, Agustin, Foresti, Ombretta, Sugden, Conor, Brouwers, Nathalie, Mateo Farre, Alex, Vignoli, Alessio, Azamian, Mahshid, Turner, Alicia, Wojnacki, Jose, Malhotra, Vivek
Publikováno v:
eLife; 3/27/2023, p1-20, 20p
Publikováno v:
Journal of Pediatric Endocrinology & Metabolism; Feb2023, Vol. 36 Issue 2, p167-173, 7p
Autor:
da Silva Lemos, Isabela, Wessler, Leticia Burato, Duarte, Mariane Bernardo, da Silva, Guilherme Lodetti, Bernardo, Henrique Teza, Candiotto, Gabriela, Torres, Carolina Antunes, Petronilho, Fabricia, Rico, Eduardo Pacheco, Streck, Emilio Luiz
Publikováno v:
Metabolic Brain Disease; Dec2022, Vol. 37 Issue 8, p2925-2935, 11p
Autor:
de Lonlay, Pascale, Posset, Roland, Mütze, Ulrike, Mention, Karine, Lamireau, Delphine, Schiff, Manuel, Servais, Aude, Arnoux, Jean Baptiste, Brassier, Anaïs, Dao, Myriam, Douillard, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Miotto, Federica, Le Mouhaër, Jeannie
Publikováno v:
Journal of Inherited Metabolic Disease Reports; May2021, Vol. 59 Issue 1, p110-119, 10p