학술논문
'학술논문'
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Nguyen A; Department of Internal Medicine and Clinical Immunology Normandie Univ, UNICAEN, CHU Caen Normandie Caen France.; Deshayes S; Department of Internal Medicine and Clinical Immunology Normandie Univ, UNICAEN, CHU Caen Normandie Caen France.; Nowoczyn M; Biochemistry Laboratory CHU Caen Normandie Caen France.; Imbard A; Biochemistry Laboratory Necker University Hospital, APHP Paris France.; Département Médicaments et Technologies Pour la Santé (DMTS) Université Paris-Saclay, CEA, INRAE, MetaboHUB Gif-sur-Yvette France.; Mansour-Hendili L; LBM SeqOIA Paris France.; Department of Genetics Henri Mondor Hospital, APHP Créteil France.; Cesbron A; Biochemistry Laboratory CHU Caen Normandie Caen France.; Benoist JF; Biochemistry Laboratory Necker University Hospital, APHP Paris France.; Département Médicaments et Technologies Pour la Santé (DMTS) Université Paris-Saclay, CEA, INRAE, MetaboHUB Gif-sur-Yvette France.; Schiff M; Reference Center for Inherited Metabolic Diseases Necker University Hospital, APHP and University of Paris Cité Paris France.; INSERM UMRS_1163, Institut Imagine Paris France.
Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Academic Journal
Busiah K; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France; Paediatric endocrinology, diabetology and obesity unit, Women-Mothers-Children Department, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland. Electronic address: kanetee.busiah@chuv.ch.; Roda C; Université Paris Cité, HERA Team, CRESS, INSERM, INRAE, F-75004 Paris, France.; Crosnier AS; Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France.; Brassier A; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France.; Servais A; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France.; Wicker C; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France; Pediatric Inherited Metabolic Diseases department, University Hospital of Strasbourg- Hautepierre, Strasbourg, France.; Dubois S; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France.; Assoun M; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France.; Belloche C; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France.; Ottolenghi C; Metabolic biochemistry, Necker Enfants-Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, Filière G2M, MetabERN, Medical School, Université Paris Cité, Paris, France.; Pontoizeau C; Metabolic biochemistry, Necker Enfants-Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, Filière G2M, MetabERN, Medical School, Université Paris Cité, Paris, France.; Souberbielle JC; Hormonology laboratory, Physiology department, Necker-Enfants Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Piketty ML; Hormonology laboratory, Physiology department, Necker-Enfants Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Perin L; Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France.; Le Bouc Y; Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France; Sorbonne University, INSERM, Saint Antoine research centre, Assistance Publique-Hôpitaux de Paris, Paris, France.; Arnoux JB; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France.; Netchine I; Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France; Sorbonne University, INSERM, Saint Antoine research centre, Assistance Publique-Hôpitaux de Paris, Paris, France.; Imbard A; Metabolic biochemistry, Necker Enfants-Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, Filière G2M, MetabERN, Medical School, Université Paris Cité, Paris, France.; de Lonlay P; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France; INSERM U1151, Necker-Enfants Malades Institute (INEM), Paris, France.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Alexandre Nguyen; Samuel Deshayes; Marie Nowoczyn; Apolline Imbard; Lamisse Mansour‐Hendili; Alexandre Cesbron; Jean François Benoist; Manuel Schiff
JIMD Reports, Vol 65, Iss 3, Pp 163-170 (2024)
Academic Journal
Hortense de Calbiac; Sebastian Montealegre; Marjolène Straube; Solène Renault; Hugo Debruge; Loïc Chentout; Sorana Ciura; Apolline Imbard; Edouard Le Guillou; Anca Marian; Nicolas Goudin; Laure Caccavelli; Sylvie Fabrega; Arnaud Hubas; Peter van Endert; Nicolas Dupont; Julien Diana; Edor Kabashi; Pascale de Lonlay
Autophagy Reports, Vol 3, Iss 1 (2024)
Academic Journal
Dupuy, Gabrielle; Roux, Charles-Joris; Barrois, Rémi; Imbard, Apolline; Pontoizeau, Clément; Dangles, Marie Thérèse; Aubart, Mélodie; Arnoux, Jean-Baptiste; Margoses, Diane; Brassier, Anaïs; Marbach, Clothilde; Bérat, Claire-Marine; Sarda, Eugénie; Gitiaux, Cyril; de Lonlay, Pascale; Boddaert, Nathalie; Schiff, Manuel; Desguerre, Isabelle
In European Journal of Paediatric Neurology May 2024 50:6-15
Academic Journal
Imbard, Apolline; Bouchereau, Juliette; Arnoux, Jean-Baptiste; Brassier, Anaïs; Schiff, Manuel; Bérat, Claire-Marine; Pontoizeau, Clément; Benoist, Jean-François; Josse, Constant; Montestruc, François; de Lonlay, Pascale
Orphanet Journal of Rare Diseases. 18(1)
Academic Journal
Apolline Imbard; Juliette Bouchereau; Jean-Baptiste Arnoux; Anaïs Brassier; Manuel Schiff; Claire-Marine Bérat; Clément Pontoizeau; Jean-François Benoist; Constant Josse; François Montestruc; Pascale de Lonlay
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Academic Journal
Stehr, Antonia M.; Lenberg, Jerica; Friedman, Jennifer; Dobbelaere, Dries; Imbard, Apolline; Levy, Jonathan; Donoghue, Sarah; Derive, Nicolas; Stoeva, Radka; Gueguen, Paul; Zech, Michael
Academic Journal
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