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1دورية أكاديمية
المؤلفون: Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour‐Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff
المصدر: JIMD Reports, Vol 65, Iss 3, Pp 163-170 (2024)
مصطلحات موضوعية: cblE, hemolysis, hemolytic anemia, hydroxocobalamin, LDH, methionine synthase reductase, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2دورية أكاديمية
المؤلفون: Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Benoît Funalot, Isabelle Desguerre
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: multivitamin deficiency, intronic variation, splicing, recurrent, mixed neuropathy, optic atrophy, Genetics, QH426-470
وصف الملف: electronic resource
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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
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديمية
المؤلفون: Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
مصطلحات موضوعية: Betaine, Homocysteine, Hyperhomocysteinemia, Cystathionine-beta-synthase deficiency, cblC deficiency, Methionine, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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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
Relation: https://doaj.org/toc/2041-1723
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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
Relation: https://doaj.org/toc/1750-1172
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7دورية 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
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8دورية 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
Relation: https://doaj.org/toc/2192-8312
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9دورية أكاديمية
المؤلفون: Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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10دورية أكاديمية
المؤلفون: Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch, Manuel Schiff
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
مصطلحات موضوعية: Mitochondria, Mitochondrial diseases, Complex I, Alternative dehydrogenases, Arabidopsis thaliana, AtNDA2, Medicine
وصف الملف: electronic resource