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Ketogenic diet exhibits anti‐inflammatory properties
Dupuis, Nina, Curatolo, Niccolo, Benoist, Jean‐François, Auvin, Stéphane
Published in Epilepsia (Copenhagen) (01.07.2015)
Published in Epilepsia (Copenhagen) (01.07.2015)
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Journal Article
Neural Tube Defects, Folic Acid and Methylation
Imbard, Apolline, Benoist, Jean-François, Blom, Henk
Published in International journal of environmental research and public health (17.09.2013)
Published in International journal of environmental research and public health (17.09.2013)
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Journal Article
Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review
Mandia, Daniele, Shor, Natalia, Benoist, Jean-François, Nadjar, Yann
Published in Archives of neurology (Chicago) (01.04.2021)
Published in Archives of neurology (Chicago) (01.04.2021)
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Journal Article
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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Journal Article
MALDI-MS in first-line screening of newborns for sickle cell disease: results from a prospective study in comparison to HPLC
El Osta, Marven, Benoist, Jean-François, Naubourg, Pierre, Bonacorsi, Stéphane, Messine, Reine, Ducoroy, Patrick, Allaf, Bichr
Published in Clinical chemistry and laboratory medicine (27.05.2024)
Published in Clinical chemistry and laboratory medicine (27.05.2024)
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Journal Article
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening
Bower, Alexandra, Imbard, Apolline, Benoist, Jean-François, Pichard, Samia, Rigal, Odile, Baud, Olivier, Schiff, Manuel
Published in Scientific reports (01.10.2019)
Published in Scientific reports (01.10.2019)
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Journal Article
LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly
Taibi, Ludmia, Schlemmer, Dimitri, Bouchereau, Juliette, Causson, Claudine, Pichard, Samia, Bourrat, Emmanuelle, Melki, Isabelle, Schiff, Manuel, Benoist, Jean-François, Imbard, Apolline
Published in Clinical chemistry (Baltimore, Md.) (04.03.2022)
Published in Clinical chemistry (Baltimore, Md.) (04.03.2022)
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Journal Article
Eicosapentaenoic acid membrane incorporation stimulates ABCA1-mediated cholesterol efflux from human THP-1 macrophages
Dakroub, Hani, Nowak, Maxime, Benoist, Jean-François, Noël, Benoît, Vedie, Benoît, Paul, Jean-Louis, Fournier, Natalie
Published in Biochimica et biophysica acta. Molecular and cell biology of lipids (01.11.2021)
Published in Biochimica et biophysica acta. Molecular and cell biology of lipids (01.11.2021)
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Journal Article
Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation
Saultier, Paul, Loosveld, Marie, Benoist, Jean‐François, Michel, Gérard
Published in British journal of haematology (01.05.2018)
Published in British journal of haematology (01.05.2018)
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Journal Article
Citrulline in the management of patients with urea cycle disorders
Imbard, Apolline, Bouchereau, Juliette, Arnoux, Jean-Baptiste, Brassier, Anaïs, Schiff, Manuel, Bérat, Claire-Marine, Pontoizeau, Clément, Benoist, Jean-François, Josse, Constant, Montestruc, François, de Lonlay, Pascale
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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Journal Article
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Bérat, Claire‐Marine, Montealegre, Sebastian, Wiedemann, Arnaud, Nuzum, Malou Le Corronc, Blondel, Amélie, Debruge, Hugo, Cano, Aline, Chabrol, Brigitte, Hoebeke, Célia, Polak, Michel, Stoupa, Athanasia, Feillet, François, Torre, Stéphanie, Boddaert, Nathalie, Bruel, Henri, Barth, Magalie, Damaj, Lena, Abi‐Wardé, Marie‐Thérèse, Afenjar, Alexandra, Benoist, Jean‐François, Madrange, Marine, Caccavelli, Laure, Renard, Perrine, Hubas, Arnaud, Nusbaum, Patrick, Pontoizeau, Clément, Gobin, Stéphanie, Endert, Peter, Ottolenghi, Chris, Maltret, Alice, Lonlay, Pascale
Published in Journal of inherited metabolic disease (01.03.2021)
Published in Journal of inherited metabolic disease (01.03.2021)
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Journal Article
Identification and quantification of amino acids and related compounds based on Differential Mobility Spectrometry
Berthias, Francis, Wang, Yali, Alhajji, Eskander, Rieul, Bernard, Moussa, Fathi, Benoist, Jean-François, Maître, Philippe
Published in Analyst (London) (21.07.2020)
Published in Analyst (London) (21.07.2020)
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Journal Article
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency
Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie‐Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, María, Chapman, Kimberly A., Chien, Yin‐Hsiu, Huemer, Martina, Ješina, Pavel, Janssen, Mirian C. H., Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras‐Hurtado, Gloria Liliana, Benoist, Jean‐François, Damaj, Léna, Schiff, Manuel, Martins, Ana Maria, Alonso, Javier Blasco, Chabrol, Brigitte, Crushell, Ellen, Dionisi‐Vici, Carlo, Grünewald, Stephanie, Mention, Karine, Mundy, Helen, Murphy, Elaine, Fraile, Pilar Quijada, Ruiz, Carlos José, Ruiz Gómez, Maria Ángeles, Santra, Saikat, Scherer, Thomas, Stainforth, Collette, Stepien, Karolina M., Sunder‐Plassmann, Gere, Van Hove, Johan L. K.
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Journal Article
Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study
Maquet, Julien, Pontoizeau, Clément, Imbard, Apolline, Gobin-Limballe, Stéphanie, Arnoux, Jean-Baptiste, Le Guillou, Édouard, Dubot, Patricia, Brassier, Anaïs, Bérat, Claire-Marine, Altenburger, Lucile, Bouchereau, Juliette, Servais, Aude, Dao, Myriam, Bonnefont, Jean-Paul, Ottolenghi, Chris, Benoist, Jean-François, de Lonlay, Pascale, Schiff, Manuel
Published in Molecular genetics and metabolism (01.09.2025)
Published in Molecular genetics and metabolism (01.09.2025)
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Journal Article
Adult-Onset Eculizumab-Resistant Hemolytic Uremic Syndrome Associated With Cobalamin C Deficiency
Cornec-Le Gall, Emilie, Delmas, Yahsou, De Parscau, Loïc, Doucet, Laurent, Ogier, Hélène, Benoist, Jean-François, Fremeaux-Bacchi, Véronique, Le Meur, Yannick
Published in American journal of kidney diseases (01.01.2014)
Published in American journal of kidney diseases (01.01.2014)
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Journal Article
Melatonin for prevention of delirium in patients receiving mechanical ventilation in the intensive care unit: a multiarm multistage adaptive randomized controlled clinical trial (DEMEL)
Mekontso Dessap, Armand, Ricard, Jean-Damien, Contou, Damien, Desnos, Cyrielle, Decavèle, Maxens, Sonneville, Romain, Vivier, Emmanuel, Terzi, Nicolas, Callahan, Jean-Christophe, Jochmans, Sebastien, Leon, Rusel, Carreira, Serge, Nseir, Saad, Chemouni, Frank, Castelain, Vincent, Paul, Muriel, Benoist, Jean-François, Audureau, Etienne, Razazi, Keyvan
Published in Intensive care medicine (01.07.2025)
Published in Intensive care medicine (01.07.2025)
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Journal Article
Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia
Ravel, Jean-Marie, Michaud, Maud, Frismand, Solène, Puisieux, Salomé, Banneau, Guillaume, Benoist, Jean-François, Lambert, Laëtitia, Bonnet, Céline, Renaud, Mathilde
Published in Parkinsonism & related disorders (01.04.2023)
Published in Parkinsonism & related disorders (01.04.2023)
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Journal Article