المؤلفون: François-Heude, Marie‐céline, Lebigot, Elise, Roze, Emmanuel, Warde, Marie Thérèse Abi, Cances, Claude, Damaj, Lena, Espil, Caroline, Fluss, Joel, de Lonlay, Pascale, Kern, Ilse, Lenaers, Guy, Munnich, Arnold, Meyer, Pierre, Spitz, Marie‐aude, Torre, Stéphanie, Doummar, Diane, Touati, Guy, Leboucq, Nicolas, Roubertie, Agathe

المساهمون: Département de neurologie Montpellier, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Université de Montpellier (UM), Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Sud CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, CHU Bordeaux, Hôpitaux Universitaires de Genève (HUG), Hôpital Necker - Enfants Malades AP-HP, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Hôpital Cochin AP-HP, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), CHU Trousseau APHP, CHU Montpellier, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

المصدر: ISSN: 1351-5101.

مصطلحات موضوعية: ECHS1, HIBCH, Dystonia, Inherited metabolic disease, [SCCO.NEUR]Cognitive science/Neuroscience

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36200804; hal-03806206; https://hal.science/hal-03806206Test; https://hal.science/hal-03806206/documentTest; https://hal.science/hal-03806206/file/2022%20Fran%C3%A7ois%20Haude%20et%20al.,%20Movement.pdfTest; PUBMED: 36200804

الإتاحة: https://doi.org/10.1111/ene.15515Test
https://hal.science/hal-03806206Test
https://hal.science/hal-03806206/documentTest
https://hal.science/hal-03806206/file/2022%20Fran%C3%A7ois%20Haude%20et%20al.,%20Movement.pdfTest

المؤلفون: Burlina, A., Jones, S. A., Chakrapani, A., Church, H. J., Heales, S., Wu, T. H. Y., Morton, G., Roberts, P., Sluys, E. F., Cheillan, D.

المساهمون: Azienda Ospedale Università di Padova = Hospital-University of Padua (AOUP), Manchester University NHS Foundation Trust (MFT), St Mary's Hospital London, Great Ormond Street Hospital for Children NHS Foundation Trust London, UK (GOSHC), University College London Hospitals NHS Foundation Trust London, UK (UCLH), ArchAngel MLD Trust London, UK (2A), Helvet Health Nyon, Switzerland (2H), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Biochimie et Biologie Moléculaire Grand Est HCL, Lyon (Centre de Biologie et de Pathologie), Hospices Civils de Lyon (HCL)

المصدر: ISSN: 2409-515X ; International Journal of Neonatal Screening ; https://www.hal.inserm.fr/inserm-03754198Test ; International Journal of Neonatal Screening, 2022, 8 (2), pp.25. ⟨10.3390/ijns8020025⟩.

مصطلحات موضوعية: Wilson and Jungner, congenital disorders, genetics, inherited disorder, inherited metabolic disease, methodology, newborn screening (NBS), paediatrics, public health, rare diseases, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35466196; inserm-03754198; https://www.hal.inserm.fr/inserm-03754198Test; https://www.hal.inserm.fr/inserm-03754198/documentTest; https://www.hal.inserm.fr/inserm-03754198/file/IJNS-08-00025-v2.pdfTest; PUBMED: 35466196; PUBMEDCENTRAL: PMC9036245

الإتاحة: https://doi.org/10.3390/ijns8020025Test
https://www.hal.inserm.fr/inserm-03754198Test
https://www.hal.inserm.fr/inserm-03754198/documentTest
https://www.hal.inserm.fr/inserm-03754198/file/IJNS-08-00025-v2.pdfTest

المؤلفون: Brailova, Marina, Clerfond, Guillaume, Trésorier, Romain, Minet-Quinard, Régine, Durif, Julie, Massoullié, Grégoire, Pereira, Bruno, Sapin, Vincent, Eschalier, Romain, Bouvier, Damien

المساهمون: CHU Clermont-Ferrand, Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne 2017-2020 (UCA 2017-2020 )-Centre National de la Recherche Scientifique (CNRS), Génétique, Reproduction et Développement (GReD ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne 2017-2020 (UCA 2017-2020 )-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://uca.hal.science/hal-03247990Test ; Journal of Clinical Medicine, 2020, 9 (3), pp.694. ⟨10.3390/jcm9030694⟩.

مصطلحات موضوعية: inherited metabolic disease, hypertrophic cardiomyopathy, arrhythmias, conduction disorders, prevalence, Fabry disease, SCAD, cardiac implantable electronic device, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32143453; hal-03247990; https://uca.hal.science/hal-03247990Test; https://uca.hal.science/hal-03247990/documentTest; https://uca.hal.science/hal-03247990/file/Brailova-J%20Clin%20Med_2020.pdfTest; PUBMED: 32143453

الإتاحة: https://doi.org/10.3390/jcm9030694Test
https://uca.hal.science/hal-03247990Test
https://uca.hal.science/hal-03247990/documentTest
https://uca.hal.science/hal-03247990/file/Brailova-J%20Clin%20Med_2020.pdfTest

المؤلفون: Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan

المساهمون: Azienda Ospedale Università di Padova = Hospital-University of Padua (AOUP), Manchester University NHS Foundation Trust (MFT), St Mary's Hospital [London], Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK] (GOSHC), University College London Hospitals NHS Foundation Trust [London, UK] (UCLH), ArchAngel MLD Trust [London, UK] (2A), Helvet Health [Nyon, Switzerland] (2H), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Biochimie et Biologie Moléculaire Grand Est [HCL, Lyon] (Centre de Biologie et de Pathologie), Hospices Civils de Lyon (HCL), CarMeN, laboratoire

المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening, MDPI, 2022, 8 (2), pp.25. ⟨10.3390/ijns8020025⟩
International Journal of Neonatal Screening; Volume 8; Issue 2; Pages: 25

مصطلحات موضوعية: congenital disorders, inherited disorder, newborn screening (NBS), Wilson and Jungner, [SDV]Life Sciences [q-bio], public health, Obstetrics and Gynecology, inherited metabolic disease, paediatrics, rare diseases, genetics, methodology, [SDV] Life Sciences [q-bio], Immunology and Microbiology (miscellaneous), Pediatrics, Perinatology and Child Health

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59c3c3846a7f3fa4465a147c95df8805Test
https://www.hal.inserm.fr/inserm-03754198Test

المؤلفون: Amélie Barthelemy, Eugeniu Vasile, Frank W. Pfrieger, Sophie Reibel, Tom Houben, Michael Reber, Martine Perraut, Izabela-Cristina Stancu, Valentina Pallottini, Valérie Demais

المساهمون: Institut National de l'Environnement Industriel et des Risques (INERIS), Department of Molecular Genetics [Maastricht, The Netherlands], Maastricht University [The Netherlands], Centre de Neurochimie, Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences Cellulaires et Intégratives (INCI), Barthelemy, A., Demais, V., Stancu, I. -C., Vasile, E., Houben, T., Reber, M., Pallottini, V., Perraut, M., Reibel, S., Pfrieger, F. W.

المصدر: Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2021, 158, ⟨10.1016/j.nbd.2021.105469⟩
Neurobiology of Disease, Vol 158, Iss, Pp 105469-(2021)
Neurobiology of Disease, 158:105469. Elsevier Science

مصطلحات موضوعية: Male, NIEMANN-PICK-DISEASE, LYSOSOMAL CHOLESTEROL, Metal Nanoparticles, UNESTERIFIED CHOLESTEROL, Amacrine cells, Mice, 0302 clinical medicine, Muller cells, BRAIN, Inclusion Bodies, Neurons, Mice, Inbred BALB C, 0303 health sciences, Microglia, BETA-CYCLODEXTRINS, Chemistry, Neutrophil granulocytes, Ganglion cells, MOUSE MODEL, Lysosome, 3. Good health, Cell biology, Cholesterol, medicine.anatomical_structure, Neurology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Astrocyte, Neuroglia, Intracellular, RC321-571, Ganglion cell, Central nervous system, Neurosciences. Biological psychiatry. Neuropsychiatry, Retina, LIPOPROTEIN-DERIVED CHOLESTEROL, 03 medical and health sciences, Niemann-Pick C1 Protein, In vivo, medicine, Extracellular, Cyclodextrin, Animals, Inherited metabolic disease, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, INTRACELLULAR-TRANSPORT, 030304 developmental biology, Cyclodextrins, Müller cell, Lipid Metabolism, NPC1, Mechanism of action, Astrocytes, Gold, C DISEASE, Intravitreal, 030217 neurology & neurosurgery, Amacrine cell

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab9d03aa4ffafcc801682d15d00b054Test
https://hal.archives-ouvertes.fr/hal-03436977/file/1-s2.0-S0969996121002187-main.pdfTest

المؤلفون: Marelli, Cecilia, Lavigne, Christian, STEPIEN, Karolina M., JANSSEN, Mirian C. H., Feillet, Francois, KOZICH, Viktor, JESINA, Pavel, Schule, Rebecca, Kessler, Christoph, REDONNET VERNHET, Isabelle, REGNIER, Adeline, Burda, Patricie, Baumgartner, Matthias, Benoist, Jean-Francois, Huemer, Martina, Mochel, Fanny, THE E-HOD, Consortium

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)

المصدر: ISSN: 0141-8955.

مصطلحات موضوعية: Adult, Inherited metabolic disease, Late-onset, MTHFR deficiency, Neurology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03404485; https://hal.archives-ouvertes.fr/hal-03404485Test

الإتاحة: https://doi.org/10.1002/jimd.12323Test
https://hal.archives-ouvertes.fr/hal-03404485Test

المؤلفون: Damien Bouvier, Marina Brailova, Guillaume Clerfond, Bruno Pereira, Romain Eschalier, Julie Durif, Romain Trésorier, Vincent Sapin, Grégoire Massoullié, Régine Minet-Quinard

المساهمون: Assuncao de Carvalho, Manuela, CHU Clermont-Ferrand, Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Génétique, Reproduction et Développement (GReD ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])

المصدر: Journal of Clinical Medicine
Journal of Clinical Medicine, 2020, 9 (3), pp.694. ⟨10.3390/jcm9030694⟩
Journal of Clinical Medicine, MDPI, 2020, 9 (3), pp.694. ⟨10.3390/jcm9030694⟩
Journal of Clinical Medicine, Vol 9, Iss 3, p 694 (2020)
Volume 9
Issue 3

مصطلحات موضوعية: medicine.medical_specialty, Ataxia, SCAD, Cardiac pathology, prevalence, lcsh:Medicine, 030204 cardiovascular system & hematology, Article, cardiac implantable electronic device, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, medicine, conduction disorders, Hurler syndrome, inherited metabolic disease, Fabry disease, business.industry, lcsh:R, Hypertrophic cardiomyopathy, General Medicine, medicine.disease, hypertrophic cardiomyopathy, 3. Good health, Metabolism disorder, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Lactic acidosis, cardiovascular system, Etiology, medicine.symptom, business, arrhythmias, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71444a0ee930fa54bf038270857b7dbbTest
https://hal.uca.fr/hal-03247990Test

المؤلفون: El Aidy, Sahar, Merrifield, Claire A., Derrien, Muriel, van Baarlen, Peter, Hooiveld, Guido, Levenez, Florence, Dore, Joel, Dekker, Jan, Holmes, Elaine, Claus, Sandrine P., Reijngoud, Dirk-Jan, Kleerebezem, Michiel

المساهمون: Microbiol Lab, Wageningen University and Research Wageningen (WUR), Fac Med, Dept Surg & Canc, Univ London Imperial Coll Sci Technol & Med, Div Human Nutr, Nutr Metab & Genom Grp, MICrobiologie de l'ALImentation au Service de la Santé (MICALIS), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Dept Anim Sci, Dept Food & Nutr Sci, Reading, University of Reading (UOR), Univ Med Ctr Groningen, Dept Lab Med, University of Groningen Groningen, Dept Hlth, NIZO Ede, Netherlands

المصدر: ISSN: 0017-5749.

مصطلحات موضوعية: C57, BL 6J ex-germ-free mice, jejunum, transcriptome, metabonome, microbiota, gut immunology, gastrointestinal tract, gene expression, gene regulation, gut inflammation, probiotics, mucosal immunology, mucins, anti-bacterial mucosal immunity, bacterial interactions, Campylobacter jejuni, colonic microflora, crohn's disease, intestinal bacteria, immune response, energy metabolism, liver metabolism, glucose metabolism, lipid metabolism, inherited metabolic disease, INFLAMMATORY-BOWEL-DISEASE, GASTRIC BYPASS, AMINO-ACID, GLUTAMATE

العلاقة: hal-01003332; https://hal.science/hal-01003332Test; PRODINRA: 211757; WOS: 000323164200015

الإتاحة: https://doi.org/10.1136/gutjnl-2011-301955Test
https://hal.science/hal-01003332Test