المؤلفون: Caroline Tuchmann‐Durand, Eloise Thevenet, Florence Moulin, Fabrice Lesage, Juliette Bouchereau, Mehdi Oualha, Diala Khraiche, Anaïs Brassier, Camille Wicker, Stéphanie Gobin‐Limballe, Jean‐Baptiste Arnoux, Florence Lacaille, Clotilde Wicart, Bruno Coat, Joel Schlattler, Salvatore Cisternino, Sylvain Renolleau, Philippe‐Henri Secretan, Pascale De Lonlay

المصدر: JIMD Reports, Vol 51, Iss 1, Pp 25-29 (2020)

مصطلحات موضوعية: computerized prescription system, inborn error of metabolism, pharmacovigilance, orphan drug, ketone body, medication error, propionic, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/9a9575a1a70c442b8f11a787c64d3550

المؤلفون: Perrine Renard, Laure Caccavelli, Antoine Legendre, Caroline Tuchmann-Durand, David Balakirouchenane, Benoit Blanchet, Céline Narjoz, Marjolène Straube, Arnaud Hubas, Alexa Garros, Karine Mention, Nathalie Bednarek, Nicolas Goudin, Christine Broissand, Joel Schlatter, Salvatore Cisternino, Nicolas Cagnard, Peter van Endert, Julien Diana, Hortense de Calbiac, Pascale de Lonlay

المصدر: Biomedicine & Pharmacotherapy, Vol 163, Iss , Pp 114813- (2023)

مصطلحات موضوعية: LPIN1, Hydroxychloroquine, Autophagy, Oxidative stress, Treatment, Therapeutics. Pharmacology, RM1-950

Relation: http://www.sciencedirect.com/science/article/pii/S0753332223006030; https://doaj.org/toc/0753-3322; https://doaj.org/article/8c594fbdadea4b608bc7cda8871f7a16

الاتاحة: https://doi.org/10.1016/j.biopha.2023.114813
https://doaj.org/article/8c594fbdadea4b608bc7cda8871f7a16

المؤلفون: Caroline Tuchmann‐Durand, Célina Roda, Perrine Renard, Guillaume Mortamet, Claire‐Marine Bérat, Lucile Altenburger, Marie Hug de Larauz, Eloise Thevenet, Charles‐Henry Cottart, Florence Moulin, Juliette Bouchereau, Anais Brassier, Jean‐Baptiste Arnoux, Manuel Schiff, Nathalie Bednarek, Delphine Lamireau, Alexa Garros, Karine Mention, Aline Cano, Lionel Finger, Michele Pelosi, Cécile Sergent Brochet, Laure Caccavelli, Jean‐Herlé Raphalen, Sylvain Renolleau, Mehdi Oualha, Pascale de Lonlay

المصدر: Journal of Inherited Metabolic Disease.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7125875ae332dfeb32f0905a37892222
https://doi.org/10.1002/jimd.12592

المؤلفون: Pascale De Lonlay, Joel Schlattler, Florence Lacaille, Fabrice Lesage, Caroline Tuchmann-Durand, Bruno Coat, Mehdi Oualha, Clotilde Wicart, Salvatore Cisternino, Philippe-Henri Secretan, Stéphanie Gobin-Limballe, Jean-Baptiste Arnoux, Anaïs Brassier, Florence Moulin, Diala Khraiche, Juliette Bouchereau, Camille Wicker, Eloise Thevenet, S. Renolleau

المصدر: JIMD Reports, Vol 51, Iss 1, Pp 25-29 (2020)
JIMD Reports

مصطلحات موضوعية: lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, medication error, Cardiomyopathy, Case Report, Case Reports, Liver transplantation, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Diseases of the endocrine glands. Clinical endocrinology, computerized prescription system, inborn error of metabolism, pharmacovigilance, orphan drug, Internal Medicine, Medicine, Propionic acidemia, Coma, lcsh:RC648-665, business.industry, Gamma hydroxybutyrate, medicine.disease, ketone body, propionic, lcsh:Genetics, Anesthesia, Anesthetic, Ketone bodies, medicine.symptom, business, medicine.drug, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc3d2ab5bd853d775a561403b9859ae
https://doaj.org/article/9a9575a1a70c442b8f11a787c64d3550

المؤلفون: Etienne Lissillour, Fabien Touzot, Semir Benaouadi, Setti Rais, Lise Rochaix, Pierre Taupin, Mariem Ghardallou, Thomas Brice, Laure Boquet, S. Coquerelle, Isabelle Durand-Zaleski, Elisa Magrin, Stéphane Blanche, Caroline Tuchmann-Durand, Marina Cavazzana, Jean Antoine Ribeil

المصدر: Human Gene Therapy. 30:753-761

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Total cost, Cost-Benefit Analysis, medicine.medical_treatment, Genetic enhancement, Genetic Vectors, Graft vs Host Disease, Hematopoietic stem cell transplantation, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, Genetics, medicine, Humans, Transplantation, Homologous, Vector (molecular biology), Child, Molecular Biology, Retrospective Studies, 030304 developmental biology, Clinical Trials as Topic, 0303 health sciences, business.industry, beta-Thalassemia, Hematopoietic Stem Cell Transplantation, Infant, Beta thalassemia, Retrospective cohort study, Genetic Therapy, Health Care Costs, Prognosis, medicine.disease, Tissue Donors, Transplantation, Treatment Outcome, Curative treatment, Child, Preschool, 030220 oncology & carcinogenesis, Molecular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c02cafb82d96f15b489eba945aad807e
https://doi.org/10.1089/hum.2018.178

المؤلفون: François-Xavier Mauvais, Olivier Pelle, Yamina Hamel, Corinne Lebreton, Pascale de Lonlay, Marine Madrange, Peter van Endert, David N. Brindley, Patrick Nusbaum, Xiaoyun Tang, Mathieu P Rodero, Perrine Renard, Ivan Nemazanyy, Caroline Tuchmann-Durand, Nicolas Goudin

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de référence pour les maladies métaboliques héréditaires [CHU Necker Enfants Malades - AP-HP], Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (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), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of Alberta, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Rodero, Mathieu, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

المصدر: Cell Reports Medicine
Cell Reports Medicine, 2021, 2 (8), pp.100370. ⟨10.1016/j.xcrm.2021.100370⟩
Cell Reports Medicine, Cell Press, 2021, 2 (8), pp.100370. ⟨10.1016/j.xcrm.2021.100370⟩

مصطلحات موضوعية: Autophagosome, Male, late endosome, [SDV]Life Sciences [q-bio], autophagosome, Myoblasts, 0302 clinical medicine, Phosphatidylinositol Phosphates, Medicine, Receptor, Child, Late endosome, 0303 health sciences, mitochondrial quality control, GTPase-Activating Proteins, Chloroquine, 3. Good health, Cell biology, Mitochondria, [SDV] Life Sciences [q-bio], Child, Preschool, Female, medicine.symptom, Rhabdomyolysis, Signal Transduction, Mitochondrial DNA, hydroxychloroquine, Endosome, Phosphatidate Phosphatase, Inflammation, Endosomes, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Humans, lipin1, 030304 developmental biology, business.industry, Autophagosomes, TLR9, rab7 GTP-Binding Proteins, Toll-like receptor 9, medicine.disease, inflammation, rhabdomyolysis, business, Lysosomes, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aead9444fb3aa70b5194ef53e626efc2
https://hal.science/hal-03367653

المؤلفون: Salvatore Cisternino, Agathe Thouvenin, Caroline Tuchmann-Durand, Pascale de Lonlay, Sarah El Mershati, Philippe-Henri Secrétan, Joël Schlatter

المصدر: Pharmaceutical Development and Technology

مصطلحات موضوعية: Drug, Quality Control, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), media_common.quotation_subject, Drug Compounding, Plasmodium vivax, Pharmaceutical Science, 02 engineering and technology, 030226 pharmacology & pharmacy, 03 medical and health sciences, Antimalarials, 0302 clinical medicine, Drug Stability, Suspensions, Internal medicine, Intensive care, parasitic diseases, Medicine, Humans, Chromatography, High Pressure Liquid, media_common, Hydroxychloroquine Sulfate, biology, business.industry, Hydroxychloroquine, General Medicine, 021001 nanoscience & nanotechnology, biology.organism_classification, medicine.disease, COVID-19 Drug Treatment, Oral suspensions, Rheumatoid arthritis, Taste, 0210 nano-technology, business, Drug Contamination, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::088ef1a743b84f42cfde7661f2a62d76
https://pubmed.ncbi.nlm.nih.gov/33428504