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
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
Neural tube defects, folic acid and methylation
Imbard, Apolline, Benoist, Jean-François, Blom, Henk J
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
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Published in Journal of inherited metabolic disease (01.01.2017)
Published in Journal of inherited metabolic disease (01.01.2017)
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Journal Article
Chance-Constrained Flight Level Assignment Problem
Wang, Chenghao, Fundo, Akli, Leger, Jean-Benoist, Nace, Dritan
Published in IEEE transactions on intelligent transportation systems (01.06.2023)
Published in IEEE transactions on intelligent transportation systems (01.06.2023)
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Journal Article
Postnatal outcome of children with antenatal colonic hyperechogenicity
Fuchs, Florent, Rodriguez, Alexis, Mousty, Eve, Morin, Denis, Roubertie, Agathe, Wells, Constance F., Prodhomme, Olivier, Benoist, Jean‐François, Dreux, Sophie, Faure, Jean‐Michel, Willems, Marjolaine
Published in Prenatal diagnosis (01.01.2024)
Published in Prenatal diagnosis (01.01.2024)
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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
SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation
Dewulf, Joseph P., Wiame, Elsa, Dorboz, Imen, Elmaleh‐Bergès, Monique, Imbard, Apolline, Dumitriu, Dana, Rak, Malgorzata, Bourillon, Agnès, Helaers, Raphaël, Malla, Alisha, Renaldo, Florence, Boespflug‐Tanguy, Odile, Vincent, Marie‐Françoise, Benoist, Jean‐François, Wevers, Ron A., Schlessinger, Avner, Van Schaftingen, Emile, Nassogne, Marie‐Cécile, Schiff, Manuel
Published in Annals of neurology (01.03.2019)
Published in Annals of neurology (01.03.2019)
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Journal Article
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome
Pennisi, Alessandra, Maranda, Bruno, Benoist, Jean‐François, Baudouin, Véronique, Rigal, Odile, Pichard, Samia, Santer, René, Romana Lepri, Francesca, Novelli, Antonio, Ogier de Baulny, Hélène, Dionisi‐Vici, Carlo, Schiff, Manuel
Published in Journal of inherited metabolic disease (01.05.2020)
Published in Journal of inherited metabolic disease (01.05.2020)
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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
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
Learning from missing data with the binary latent block model
Frisch, Gabriel, Leger, Jean-Benoist, Grandvalet, Yves
Published in Statistics and computing (15.02.2022)
Published in Statistics and computing (15.02.2022)
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Journal Article
Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection
Rafat, Cédric, Doreille, Alice, Dancer, Marine, Werion, Alexis, Benoist, Jean-François, Raymond, Laure, Mesnard, Laurent
Published in Clinical kidney journal (01.11.2023)
Published in Clinical kidney journal (01.11.2023)
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Journal Article
Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience
Brassier, Anaïs, Krug, Pauline, Lacaille, Florence, Pontoizeau, Clément, Krid, Saoussen, Sissaoui, Samira, Servais, Aude, Arnoux, Jean‐Baptiste, Legendre, Christophe, Charbit, Marina, Scemla, Anne, Francoz, Claire, Benoist, Jean‐François, Schiff, Manuel, Mochel, Fanny, Touati, Guy, Broué, Pierre, Cano, Aline, Tardieu, Marine, Querciagrossa, Stefania, Grévent, David, Boyer, Olivia, Dupic, Laurent, Oualha, Mehdi, Girard, Muriel, Aigrain, Yves, Debray, Dominique, Capito, Carmen, Ottolenghi, Chris, Salomon, Rémi, Chardot, Christophe, Lonlay, Pascale
Published in Journal of inherited metabolic disease (01.03.2020)
Published in Journal of inherited metabolic disease (01.03.2020)
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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