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المؤلفون: Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Anais Brassier, Manuel Schiff, Samia Pichard, Alexandre Fabre, Celia Hoebeke, Nathalie Guffon, Alain Fouilhoux, Pierre Broué, Guy Touati, Dries Dobbelaere, Karine Mention, Francois Labarthe, Marine Tardieu, Loïc De Parscau, Francois Feillet, Chrystèle Bonnemains, Alice Kuster, Philippe Labrune, Magalie Barth, Lena Damaj, Delphine Lamireau, Julie Berbis, Pascal Auquier, Brigitte Chabrol
المساهمون: Aix Marseille Université (AMU), Physiopathologie des Adaptations Nutritionnelles (PhAN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Centre hospitalier universitaire de Nantes (CHU Nantes)
المصدر: The Journal of Pediatrics
The Journal of Pediatrics, 2022, ⟨10.1016/j.jpeds.2022.08.060⟩مصطلحات موضوعية: [SDV]Life Sciences [q-bio], Pediatrics, Perinatology and Child Health
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المؤلفون: Claire-Marine Bérat, Athanasia Stoupa, Henri Bruel, Lena Damaj, Marine Madrange, Perrine Renard, Celia Hoebeke, Magalie Barth, Alice Maltret, Arnaud Wiedemann, Nathalie Boddaert, Chris Ottolenghi, Sebastian Montealegre, Arnaud Hubas, Laure Caccavelli, Peter van Endert, Amélie Blondel, Alexandra Afenjar, Marie-Thérèse Abi-Wardé, Aline Cano, Stéphanie Gobin, Jean-François Benoist, François Feillet, Malou Le Corronc Nuzum, Stéphanie Torre, Patrick Nusbaum, Clément Pontoizeau, Brigitte Chabrol, Hugo Debruge, Michel Polak, Pascale de Lonlay
المصدر: Journal of Inherited Metabolic Disease. 44:415-425
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Encephalopathy, Disease, Rhabdomyolysis, Young Adult, Hypothyroidism, Internal medicine, Intensive care, Genetics, medicine, Humans, Myocyte, Exome, Child, Genetics (clinical), Retrospective Studies, business.industry, Aryl Hydrocarbon Receptor Nuclear Translocator, Infant, Cardiac arrhythmia, Arrhythmias, Cardiac, medicine.disease, Mitochondria, Pedigree, Glutamine, Phenotype, Endocrinology, Mechanism of action, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, France, medicine.symptom, business
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المؤلفون: Charlotte La Fay, Pauline Heux, Anne Spraul, Marine Juzaud, Alice Hadchouel, Alexandre Fabre, Jean-Christophe Dubus, Celia Hoebeke
المساهمون: Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Bicêtre Hospital, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM], Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Service de Pneumologie Allergologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), COMBE, Isabelle
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (11), pp.104334. ⟨10.1016/j.ejmg.2021.104334⟩
European Journal of Medical Genetics, 2021, 64 (11), pp.104334. ⟨10.1016/j.ejmg.2021.104334⟩مصطلحات موضوعية: Male, medicine.disease_cause, Bioinformatics, Liver disease, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MARS1, Hypoalbuminemia, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases, 0303 health sciences, Mutation, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Liver Diseases, 030305 genetics & heredity, LARS1, General Medicine, Syndrome, Phenotype, 3. Good health, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Failure to thrive, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Female, medicine.symptom, Pulmonary alveolar proteinosis, [SDV.MP.PAR] Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Methionine-tRNA Ligase, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Human Phenotype Ontology, Genetics, medicine, Humans, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Gene, 030304 developmental biology, business.industry, Infant, Infantile liver failure syndrome type 1, medicine.disease, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Failure to Thrive, tRNA synthetase deficiency, Leucine-tRNA Ligase, [SDV.MP.BAC] Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, business, Lung Diseases, Interstitial
وصف الملف: application/pdf
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المؤلفون: Julien Neveu, Aline Cano, Celia Hoebeke, Cecile Acquaviva-Bourdain, Marguerite Gastaldi, Brigitte Chabrol
المساهمون: Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
المصدر: Clinical Chemistry
Clinical Chemistry, 2022, 68 (4), pp.604-606. ⟨10.1093/clinchem/hvab223⟩مصطلحات موضوعية: Male, Pulmonary Arterial Hypertension, [SDV]Life Sciences [q-bio], Biochemistry (medical), Clinical Biochemistry, Humans, Carrier Proteins, Amino Acid Metabolism, Inborn Errors, ComputingMilieux_MISCELLANEOUS
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المؤلفون: Lena Damaj, M. Tardieu, Pierre Broué, François Feillet, Celia Hoebeke, Aline Cano, Julie Berbis, Brigitte Chabrol, Pascal Auquier, Karine Mention, Nathalie Guffon, Abdoulaye Ouattara, Pascale de Lonlay, Alice Kuster, Delphine Lamireau, Noémie Resseguier, Anaïs Brassier, François Labarthe, Guy Touati, Manuel Schiff, Alexandre Fabre, Philippe Labrune, Loïc De Parscau, Chrystèle Bonnemains, Magalie Barth, Alain Fouilhoux, Jean-Baptiste Arnoux, Dries Dobbelaere, Samia Pichard
المصدر: The Journal of Pediatrics. 242:192-200.e3
مصطلحات موضوعية: Male, Parents, Younger age, business.industry, Disease, Structural equation modeling, Cross-Sectional Studies, Quality of life, Treatment plan, Surveys and Questionnaires, Pediatrics, Perinatology and Child Health, Quality of Life, medicine, Humans, Anxiety, Female, Restricted diet, medicine.symptom, Child, business, Psychosocial, Metabolism, Inborn Errors, Clinical psychology
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المؤلفون: Karine Mention, Manuel Schiff, Magalie Barth, Alexandre Fabre, Loïc De Parscau, François Feillet, Philippe Labrune, Abdoulaye Ouattara, Noémie Resseguier, Aline Cano, Lena Damaj, Jean-Baptiste Arnoux, Alain Fouilhoux, François Labarthe, Celia Hoebeke, Dries Dobbelaere, Brigitte Chabrol, Nathalie Guffon, Guy Touati, Delphine Lamireau, Anaïs Brassier, Chrystèle Bonnemains, Samia Pichard, Julie Berbis, Pascal Auquier, M. Tardieu, Pierre Broué, Pascale de Lonlay, Alice Kuster
المساهمون: Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Physiopathologie des Adaptations Nutritionnelles (PhAN), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
المصدر: Journal of Pediatrics
Journal of Pediatrics, Elsevier, 2020, 220, pp.184-192.e6. ⟨10.1016/j.jpeds.2020.01.059⟩
The Journal of Pediatrics
The Journal of Pediatrics, 2020, 220, pp.184-192.e6. ⟨10.1016/j.jpeds.2020.01.059⟩مصطلحات موضوعية: Male, Parents, Gerontology, Adolescent, Health Status, [SDV]Life Sciences [q-bio], Population, Disease, Proxy (climate), 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Humans, Medicine, In patient, 030212 general & internal medicine, Restricted diet, Child, Healthcare data, education, ComputingMilieux_MISCELLANEOUS, education.field_of_study, business.industry, Medical record, Anthropometry, humanities, 3. Good health, Cross-Sectional Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Quality of Life, Female, France, Self Report, business, Metabolism, Inborn Errors, Diet Therapy
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المؤلفون: Aline Cano, P. de Lonlay, Celia Hoebeke, Brigitte Chabrol
المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 28(1)
مصطلحات موضوعية: Genetic Markers, Male, Pediatrics, medicine.medical_specialty, Multiple disabilities, Developmental Disabilities, Encephalopathy, Disease, Gene mutation, Rhabdomyolysis, 03 medical and health sciences, 0302 clinical medicine, Fatal Outcome, 030225 pediatrics, medicine, Humans, Child, Brain Diseases, business.industry, Aryl Hydrocarbon Receptor Nuclear Translocator, Arrhythmias, Cardiac, medicine.disease, Developmental disorder, Natural history, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Female, business
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المؤلفون: Celia Hoebeke, Didier Scavarda, Isabelle Desguerre, Stéphane Auvin, Aline Cano, Samia Pichard, Brigitte Chabrol, Bastien Estublier
المساهمون: Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2021, 30, pp.17-21. ⟨10.1016/j.ejpn.2020.12.002⟩مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Cerliponase alfa, Gene mutation, Time-to-Treatment, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, medicine, Humans, Enzyme Replacement Therapy, Stage (cooking), Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Tripeptidyl-Peptidase 1, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, General Medicine, Enzyme replacement therapy, Tripeptidyl peptidase I, Recombinant Proteins, Natural history, Neuronal Ceroid Lipofuscinosis Type 2, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, Neurology (clinical), France, business, 030217 neurology & neurosurgery
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