المؤلفون: Christian Lavigne, Lena Damaj, Esther Noel, François Maillot, Sybill Charriere, Adrien Bigot, Vincent Rigalleau, Claire Douillard, Fanny Mochel, Elsa Kaphan, Ségolène Toquet, Amélie Servettaz, Samir Mesli, Gérard Besson, Roselyne Garnotel, Caroline Moreau, Agathe Roubertie, Sylvie Odent, Isabelle Redonnet-Vernhet, Jean Baptiste Arnoux, Marta Spodenkiewicz, Aude Servais

المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, ⟨10.1002/jimd.12403⟩

مصطلحات موضوعية: Adult, Male, Ornithine, Pediatrics, medicine.medical_specialty, Adolescent, Argininosuccinic Aciduria, Context (language use), Inherited metabolic diseases, Urea cycle disorders, 03 medical and health sciences, Young Adult, Sex Factors, Intensive care, Genetics, Medicine, Adults, Humans, Hyperammonemia, Decompensation, Family history, Age of Onset, Urea Cycle Disorders, Inborn, Genetics (clinical), 030304 developmental biology, Aged, Retrospective Studies, Coma, Aged, 80 and over, 0303 health sciences, biology, business.industry, 030305 genetics & heredity, Middle Aged, medicine.disease, 3. Good health, Ornithine Carbamoyltransferase Deficiency Disease, Citrin, Argininosuccinic aciduria, Late-onset diagnosis, Cohort, biology.protein, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Female, France, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88826c8496ec65eeeef85daf47f752f6Test
https://pubmed.ncbi.nlm.nih.gov/34014557Test

المؤلفون: Gérard Besson, Véronique Ducros, Lysiane Boulet, Patrice Faure, Christelle Corne

المصدر: Annales de biologie clinique. 76:150-156

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Phenylalanine hydroxylase, Population, Phenylalanine, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Predictive Value of Tests, Reference Values, Tandem Mass Spectrometry, Phenylketonurias, Internal medicine, medicine, Humans, education, education.field_of_study, biology, business.industry, Tryptophan, General Medicine, Metabolism, Middle Aged, Tryptophan Metabolism, medicine.disease, Endocrinology, chemistry, Inborn error of metabolism, Case-Control Studies, Metabolome, biology.protein, Female, business, Blood Chemical Analysis, Kynurenine, Chromatography, Liquid

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d063a4cc7d1793a4751b3ab44e2271dTest
https://doi.org/10.1684/abc.2018.1334Test

المؤلفون: Olivier Casez, Monique Baccard-Longère, Julien Lupo, Dominique Jean, Jean Boutonnat, Raphaële Germi, Gérard Besson, Pascale Hoffmann, Patrice Morand, Carole Schwebel, Alain Rougé

المساهمون: Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Institut de biologie structurale (IBS - UMR 5075 ), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), 'Personal Protection Against Vectors' working group (PPAV), PPAV working group, Laboratoire de virologie, Centre Hospitalo-Universitaire de Grenoble, Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Pôle Psychiatrie et Neurologie [Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), Université de Lorraine (UL), CHU Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Service de Réanimation Médicale [Grenoble], CHU Grenoble-Hôpital Michallon, Biologie du Cancer et de l'Infection (BCI ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG)

المصدر: Journal of Clinical Virology
Journal of Clinical Virology, Elsevier, 2016, 79, pp.74-76. ⟨10.1016/j.jcv.2016.04.010⟩

مصطلحات موضوعية: Cytomegalovirus, 0302 clinical medicine, MESH: Pregnancy, Pregnancy, Congenital infection, Medicine, 030212 general & internal medicine, MESH: Immunoglobulins, Intravenous, reproductive and urinary physiology, MESH: Treatment Outcome, biology, Fetal death, Guillain-Barre syndrome, Immunoglobulins, Intravenous, virus diseases, Guillain-Barré syndrome, 3. Good health, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], Treatment Outcome, Infectious Diseases, In utero, MESH: Pregnancy Complications, Cytomegalovirus Infections, Female, Antibody, Adult, MESH: Antiviral Agents, Congenital cytomegalovirus infection, Immunoglobulins, Guillain-Barre Syndrome, Antiviral Agents, 03 medical and health sciences, Virology, Humans, Fetal Death, MESH: Guillain-Barre Syndrome, Fetus, MESH: Humans, business.industry, MESH: Adult, MESH: Cytomegalovirus Infections, medicine.disease, Pregnancy Complications, Cytomegalovirus infection, Immunology, biology.protein, bacteria, MESH: Fetal Death, business, MESH: Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f32650935a2d59f244c56bb844b1433Test
https://hal.archives-ouvertes.fr/hal-02060010Test

المؤلفون: Helene-Farnase Jafari-Schluep, Gérard Besson, William Camu, Valerie Briolotti, Philippe Corcia, Véronique Mayeux

المصدر: Annals of Neurology. 53:815-818

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, SOD1, Gene Expression, Gastroenterology, Genetic determinism, Central nervous system disease, Superoxide dismutase, Superoxide Dismutase-1, Degenerative disease, Internal medicine, Humans, Point Mutation, Medicine, Age of Onset, Amyotrophic lateral sclerosis, Aged, Aged, 80 and over, biology, Superoxide Dismutase, business.industry, Genetic Carrier Screening, Point mutation, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Pedigree, Neurology, biology.protein, Female, Neurology (clinical), Age of onset, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c00968b5d5de1ceaf75c28b90030950Test
https://doi.org/10.1002/ana.10605Test

المؤلفون: Candice Trocme, Athan Baillet, Vanessa Chanteperdrix, Pierre Casez, Catherine Garrel, Gérard Besson

المصدر: Neurochemical research. 35(10)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Antioxidant, medicine.medical_treatment, medicine.disease_cause, Biochemistry, Antioxidants, Superoxide dismutase, Lipid peroxidation, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Sex Factors, Internal medicine, medicine, Humans, chemistry.chemical_classification, Glutathione Peroxidase, biology, Chemistry, Superoxide Dismutase, Glutathione peroxidase, Neurodegeneration, Amyotrophic Lateral Sclerosis, Age Factors, Parkinson Disease, General Medicine, Glutathione, Middle Aged, medicine.disease, Malondialdehyde, Trace Elements, Oxidative Stress, Endocrinology, Immunology, Multivariate Analysis, biology.protein, Female, Oxidative stress, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6d0387ce1fc4959f11d4f093e5e0655Test
https://pubmed.ncbi.nlm.nih.gov/20535556Test