-
1دورية أكاديمية
المؤلفون: F. Habarou, A. Brassier, M. Rio, D. Chrétien, S. Monnot, V. Barbier, R. Barouki, J.P. Bonnefont, N. Boddaert, B. Chadefaux-Vekemans, L. Le Moyec, J. Bastin, C. Ottolenghi, P. de Lonlay
المصدر: Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 25-31 (2015)
مصطلحات موضوعية: PC deficiency, Lactic acidosis, Secondary mitochondrial respiratory chain defects, Bezafibrate, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426914000718Test; https://doaj.org/toc/2214-4269Test
-
2دورية أكاديمية
المؤلفون: Daniela Telehuz, Oana Plesa, Florence Bouilloud, Helene Wucher, Pascale De Lonlay, Claire-Marine Bérat, Cécile Saint-Martin, Olivier Dupuy, Jean-Baptiste Arnoux
المصدر: Frontiers in Endocrinology, Vol 15 (2024)
مصطلحات موضوعية: ABCC8, pasireotide, diazoxide-unresponsive, compound heterotozygosity, congenital hyperinsulinism (CHI), congenital hyperinsulinaemic hypoglycaemia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2024.1408003/fullTest; https://doaj.org/toc/1664-2392Test
-
3دورية أكاديمية
المؤلفون: 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
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Ammonia, Arginine, Citrulline, Urea cycle disorders, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
-
4دورية أكاديمية
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
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0753332223006030Test; https://doaj.org/toc/0753-3322Test
-
5دورية أكاديمية
المؤلفون: 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
المصدر: Autophagy Reports, Vol 3, Iss 1 (2024)
مصطلحات موضوعية: Autophagy, calpeptin, myoblasts, rhabdomyolysis, TANGO2, zebrafish, Cytology, QH573-671
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2769-4127Test
-
6دورية أكاديمية
المؤلفون: Posset, Roland, Garbade, Sven F, Gleich, Florian, Gropman, Andrea L, de Lonlay, Pascale, Hoffmann, Georg F, Garcia-Cazorla, Angeles, Nagamani, Sandesh CS, Baumgartner, Matthias R, Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias, Urea Cycle Disorders Consortium (UCDC), European registry and network for Intoxication type Metabolic Diseases (E-IMD)
المصدر: Scientific reports. 10(1)
مصطلحات موضوعية: Urea Cycle Disorders Consortium, European registry and network for Intoxication type Metabolic Diseases
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8s1446cgTest
-
7دورية أكاديمية
المؤلفون: Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao, Pascale de Lonlay
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Maple syrup urine disease, Decompensation, Treatment, Intravenous, Branched-chain amino acid-free formula, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
-
8دورية أكاديمية
المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri
المصدر: Journal of Inherited Metabolic Disease. 42(1)
مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5h73x4jbTest
-
9دورية أكاديمية
المؤلفون: Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff
المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100933- (2022)
مصطلحات موضوعية: Tyrosinemia type 1, Hepatocellular carcinoma, Neurocognitive outcome, Newborn screening, Succinylacetone, NTBC, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426922000933Test; https://doaj.org/toc/2214-4269Test
-
10دورية أكاديمية
المؤلفون: Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Fatty liver disease, Lysosomal storage disease, Myopathic phenotype, Health-related quality of life, Rapidly progressive lysosomal acid lipase deficiency, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test