Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Petit, François M., Hubert, Aurélie, Labrune, Philippe, Smit, G. Peter A., Derks, Terry G. J.
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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Journal Article
Glucose-6-phosphatase deficiency
Froissart, Roseline, Piraud, Monique, Boudjemline, Alix Mollet, Vianey-Saban, Christine, Petit, François, Hubert-Buron, Aurélie, Eberschweiler, Pascale Trioche, Gajdos, Vincent, Labrune, Philippe
Published in Orphanet journal of rare diseases (20.05.2011)
Published in Orphanet journal of rare diseases (20.05.2011)
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Journal Article
Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome
Aronson, Sem J, Veron, Philippe, Collaud, Fanny, Hubert, Aurélie, Delahais, Virginie, Honnet, Géraldine, de Knegt, Robert J, Junge, Norman, Baumann, Ulrich, Di Giorgio, Angelo, D'Antiga, Lorenzo, Ginocchio, Virginia M, Brunetti-Pierri, Nicola, Labrune, Philippe, Beuers, Ulrich, Bosma, Piter J, Mingozzi, Federico
Published in Human gene therapy (01.10.2019)
Published in Human gene therapy (01.10.2019)
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Journal Article
Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients
Biosse Duplan, Martin, Hubert, Aurélie, Le Norcy, Elvire, Louzoun, Alice, Perry, Ariane, Chaussain, Catherine, Labrune, Philippe
Published in Journal of inherited metabolic disease (01.12.2018)
Published in Journal of inherited metabolic disease (01.12.2018)
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Journal Article
Modulation of nitric oxide and cytokines production by l-arginine in human gut mucosa
Lecleire, Stephane, Coeffier, Moise, Leblond, Jonathan, Hubert, Aurelie, Lemoulan, Sabrina, Petit, Andre, Ducrotte, Philippe, Dechelotte, Pierre, Marion, Rachel
Published in Clinical nutrition (Edinburgh, Scotland) (01.06.2005)
Published in Clinical nutrition (Edinburgh, Scotland) (01.06.2005)
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Journal Article
Gene Therapy in Patients with the Crigler–Najjar Syndrome
D’Antiga, Lorenzo, Beuers, Ulrich, Ronzitti, Giuseppe, Brunetti-Pierri, Nicola, Baumann, Ulrich, Di Giorgio, Angelo, Aronson, Sem, Hubert, Aurelie, Romano, Roberta, Junge, Norman, Bosma, Piter, Bortolussi, Giulia, Muro, Andrés F., Soumoudronga, Ravaka F., Veron, Philippe, Collaud, Fanny, Knuchel-Legendre, Nathalie, Labrune, Philippe, Mingozzi, Federico
Published in The New England journal of medicine (17.08.2023)
Published in The New England journal of medicine (17.08.2023)
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Journal Article
Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry
Aronson, Sem J., Junge, Norman, Trabelsi, Mediha, Kelmemi, Wided, Hubert, Aurelie, Brigatti, Karlla W., Fox, Michael D., Knegt, Robert J., Escher, Johanna C., Ginocchio, Virginia M., Iorio, Raffaele, Zhu, Yan, Özçay, Figen, Rahim, Fakher, El‐Shabrawi, Mortada H.F., Shteyer, Eyal, Di Giorgio, Angelo, D'Antiga, Lorenzo, Mingozzi, Federico, Brunetti‐Pierri, Nicola, Strauss, Kevin A., Labrune, Philippe, Mrad, Ridha, Baumann, Ulrich, Beuers, Ulrich, Bosma, Piter J.
Published in Liver international (01.07.2022)
Published in Liver international (01.07.2022)
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Journal Article
Osmotic stress, a proinflammatory signal in Caco-2 cells
Hubert, Aurélie, Cauliez, Bruno, Chedeville, Arlette, Husson, Annie, Lavoinne, Alain
Published in Biochimie (01.08.2004)
Published in Biochimie (01.08.2004)
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Journal Article
Progressive development of renal cysts in glycogen storage disease type I
Gjorgjieva, Monika, Raffin, Margaux, Duchampt, Adeline, Perry, Ariane, Stefanutti, Anne, Brevet, Marie, Tortereau, Antonin, Dubourg, Laurence, Hubert-Buron, Aurélie, Mabille, Mylène, Pelissou, Coralie, Lassalle, Louis, Labrune, Philippe, Mithieux, Gilles, Rajas, Fabienne
Published in Human molecular genetics (01.09.2016)
Published in Human molecular genetics (01.09.2016)
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Journal Article
Natural history of hepatic glycogen storage diseases
Labrune, Philippe, Eberschweiler, Pascale Trioche, Boudjemline, Alix Mollet, Hubert-Buron, Aurélie, Petit, François, Gajdos, Vincent
Published in La Presse médicale (1983) (01.07.2008)
Published in La Presse médicale (1983) (01.07.2008)
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Journal Article
Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency
Ben Yaou, Rabah, Hubert, Aurelie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frederic, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisele, Vissing, John, Laforet, Pascal, Petit, Francois M.
Published in Neurology. Genetics (01.12.2017)
Published in Neurology. Genetics (01.12.2017)
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Journal Article
0224: Cardiac involvement in glycogen storage disease type III
Fayssoil, Abdallah, Laforet, Pascal, Gajdos, Vincent, Petit, François, Hubert, Aurelie, Labrune, Philippe, Eymard, Bruno, Duboc, Denis, Wahbi, Karim
Published in Archives of Cardiovascular Diseases Supplements (01.01.2016)
Published in Archives of Cardiovascular Diseases Supplements (01.01.2016)
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Journal Article
Glutamine Pretreatment Reduces IL-8 Production in Human Intestinal Epithelial Cells by Limiting IκBα Ubiquitination
Hubert-Buron, Aurélie, Leblond, Jonathan, Jacquot, Arnaud, Ducrotté, Philippe, Déchelotte, Pierre, Coëffier, Moïse
Published in The Journal of nutrition (01.06.2006)
Published in The Journal of nutrition (01.06.2006)
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Journal Article
Chemotherapy-induced mucositis is associated with changes in proteolytic pathways
Leblond, Jonathan, Le Pessot, Florence, Hubert-Buron, Aurélie, Duclos, Célia, Vuichoud, Jacques, Faure, Magali, Breuillé, Denis, Déchelotte, Pierre, Coëffier, Moïse
Published in Experimental biology and medicine (Maywood, N.J.) (01.02.2008)
Published in Experimental biology and medicine (Maywood, N.J.) (01.02.2008)
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Journal Article
Perioperative Management of Hemostasis for Surgery of Benign Hepatic Adenomas in Patients with Glycogen Storage Disease Type Ia
Mollet-Boudjemline, Alix, Hubert-Buron, Aurélie, Boyer-Neumann, Catherine, Aldea, Roxana, Franco, Dominique, Trioche-Eberschweiller, Pascale, Mas, Anne-Elisabeth, Mabille, Mylène, Labrune, Philippe, Gajdos, Vincent
Published in JIMD Reports - Case and Research Reports, 2011/1 (01.01.2011)
Published in JIMD Reports - Case and Research Reports, 2011/1 (01.01.2011)
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Book Chapter
Journal Article
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R, Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisèle, Vissing, John, Laforet, Pascal, Petit, François M
Published in Neurology. Genetics (01.12.2017)
Published in Neurology. Genetics (01.12.2017)
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Journal Article