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1دورية أكاديمية
المؤلفون: Pascale de Lonlay, Roland Posset, Ulrike Mütze, Karine Mention, Delphine Lamireau, Manuel Schiff, Aude Servais, Jean Baptiste Arnoux, Anaïs Brassier, Myriam Dao, Claire Douillard, Chris Ottolenghi, Clément Pontoizeau, Federica Miotto, Jeannie Le Mouhaër
المصدر: JIMD Reports, Vol 59, Iss 1, Pp 110-119 (2021)
مصطلحات موضوعية: BCAA‐free formula, maple syrup urine disease, metabolic decompensations, observational study, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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2دورية أكاديميةInfectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort
المؤلفون: Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M. Ruemmele, Pascale de Lonlay
المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
مصطلحات موضوعية: Glycogen storage disease type 1B, Neutropenia, Inflammatory bowel disease, Harvey Bradshaw score, Anti-inflammatory solutions, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920300276Test; https://doaj.org/toc/2214-4269Test
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3دورية 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
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4دورية 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
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5دورية أكاديمية
المؤلفون: Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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6دورية 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
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7دورية أكاديمية
المؤلفون: Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, David Cheillan
المصدر: International Journal of Neonatal Screening; Volume 9; Issue 1; Pages: 6
مصطلحات موضوعية: primary carnitine deficiency, CDSP, PCD, CTD, CUD, newborn screening, NBS
وصف الملف: application/pdf
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8دورية 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
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9دورية أكاديمية
المؤلفون: Daniela Braconi, Michela Geminiani, Eftychia Eirini Psarelli, Daniela Giustarini, Barbara Marzocchi, Ranieri Rossi, Giulia Bernardini, Ottavia Spiga, James A. Gallagher, Kim-Hanh Le Quan Sang, Jean-Baptiste Arnoux, Richard Imrich, Mohammed S. Al-Sbou, Matthew Gornall, Richard Jackson, Lakshminarayan R. Ranganath, Annalisa Santucci
المصدر: Cells, Vol 11, Iss 22, p 3668 (2022)
مصطلحات موضوعية: amyloidosis, biomarkers, disease severity, inborn errors of metabolism, inflammation, oxidative stress, Cytology, QH573-671
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-2 (2022)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test