Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects
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Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Published in Orphanet journal of rare diseases (20.05.2011)
Published in Orphanet journal of rare diseases (20.05.2011)
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Galactokinase deficiency: lessons from the GalNet registry
Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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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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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
Derks, Terry G J, Rodriguez-Buritica, David F, Ahmad, Ayesha, de Boer, Foekje, Couce, María L, Grünert, Sarah C, Labrune, Philippe, López Maldonado, Nerea, Fischinger Moura de Souza, Carolina, Riba-Wolman, Rebecca, Rossi, Alessandro, Saavedra, Heather, Gupta, Rupal Naik, Valayannopoulos, Vassili, Mitchell, John
Published in Nutrients (27.10.2021)
Published in Nutrients (27.10.2021)
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Fertility in adult women with classic galactosemia and primary ovarian insufficiency
van Erven, Britt, M.D., Ph.D, Berry, Gerard T., M.D, Cassiman, David, M.D., Ph.D, Connolly, Geraldine, M.D, Forga, Maria, M.D, Gautschi, Matthias, M.D., Ph.D, Gubbels, Cynthia S., M.D., Ph.D, Hollak, Carla E.M., M.D., Ph.D, Janssen, Mirian C., M.D., Ph.D, Knerr, Ina, M.D., Ph.D, Labrune, Philippe, M.D., Ph.D, Langendonk, Janneke G., M.D., Ph.D, Õunap, Katrin, M.D., Ph.D, Thijs, Abel, M.D., Ph.D, Vos, Rein, Ph.D, Wortmann, Saskia B., M.D., Ph.D, Rubio-Gozalbo, M. Estela, M.D., Ph.D
Published in Fertility and sterility (01.07.2017)
Published in Fertility and sterility (01.07.2017)
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GNAS -activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation
Nault, Jean Charles, Fabre, Monique, Couchy, Gabrielle, Pilati, Camilla, Jeannot, Emmanuelle, Tran Van Nhieu, Jeanne, Saint-Paul, Marie-Christine, De Muret, Anne, Redon, Marie-José, Buffet, Catherine, Salenave, Sylvie, Balabaud, Charles, Prevot, Sophie, Labrune, Philippe, Bioulac-Sage, Paulette, Scoazec, Jean-Yves, Chanson, Philippe, Zucman-Rossi, Jessica
Published in Journal of hepatology (01.01.2012)
Published in Journal of hepatology (01.01.2012)
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French recommendations for the management of glycogen storage disease type III
Wicker, Camille, Cano, Aline, Decostre, Valérie, Froissart, Roseline, Maillot, François, Perry, Ariane, Petit, François, Voillot, Catherine, Wahbi, Karim, Wenz, Joëlle, Laforêt, Pascal, Labrune, Philippe
Published in European journal of medical research (24.07.2023)
Published in European journal of medical research (24.07.2023)
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Effectiveness of chest physiotherapy in infants hospitalized with acute bronchiolitis: a multicenter, randomized, controlled trial
Gajdos, Vincent, Katsahian, Sandrine, Beydon, Nicole, Abadie, Véronique, de Pontual, Loïc, Larrar, Sophie, Epaud, Ralph, Chevallier, Bertrand, Bailleux, Sylvain, Mollet-Boudjemline, Alix, Bouyer, Jean, Chevret, Sylvie, Labrune, Philippe
Published in PLoS medicine (01.09.2010)
Published in PLoS medicine (01.09.2010)
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Growth development of French children born after in vitro maturation
Foix-L'Hélias, Laurence, Grynberg, Michael, Ducot, Béatrice, Frydman, Nelly, Kerbrat, Violaine, Bouyer, Jean, Labrune, Philippe
Published in PloS one (26.02.2014)
Published in PloS one (26.02.2014)
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Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort
Wicker, Camille, Roda, Célina, Perry, Ariane, Arnoux, Jean Baptiste, Brassier, Anais, Castelle, Martin, Servais, Aude, Donadieu, Jean, Bouchereau, Juliette, Pigneur, Bénédicte, Labrune, Philippe, Ruemmele, Frank M., de Lonlay, Pascale
Published in Molecular genetics and metabolism reports (01.06.2020)
Published in Molecular genetics and metabolism reports (01.06.2020)
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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors, Carola, Krag, Thomas, Jauze, Louisa, Fabregue, Julien, Labrune, Philippe, Milisenda, Jose, Nadaj-Pakleza, Aleksandra, Sacconi, Sabrina, Mingozzi, Federico, Ronzitti, Giuseppe, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B, Nishino, Ichizo, Malfatti, Edoardo
Published in Acta neuropathologica communications (28.10.2019)
Published in Acta neuropathologica communications (28.10.2019)
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Impact of chest radiography for children with lower respiratory tract infection: a propensity score approach
Ecochard-Dugelay, Emmanuelle, Beliah, Muriel, Boisson, Caroline, Perreaux, Francis, de Laveaucoupet, Jocelyne, Labrune, Philippe, Epaud, Ralph, Ducou-Lepointe, Hubert, Bouyer, Jean, Gajdos, Vincent
Published in PloS one (02.05.2014)
Published in PloS one (02.05.2014)
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Puberty and fertility in classic galactosemia
Flechtner, Isabelle, Viaud, Magali, Kariyawasam, Dulanjalee, Perrissin-Fabert, Marie, Bidet, Maud, Bachelot, Anne, Touraine, Philippe, Labrune, Philippe, de Lonlay, Pascale, Polak, Michel
Published in Endocrine Connections (01.02.2021)
Published in Endocrine Connections (01.02.2021)
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Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)
Rake, Jan Peter, Visser, Gepke, Labrune, Philippe, Leonard, James V, Ullrich, Kurt, Smit, G Peter A
Published in European journal of pediatrics (01.10.2002)
Published in European journal of pediatrics (01.10.2002)
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Journal Article
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)
Rake, Jan, Visser, Gepke, Labrune, Philippe, Leonard, James, Ullrich, Kurt, Smit, Peter
Published in European journal of pediatrics (01.01.2002)
Published in European journal of pediatrics (01.01.2002)
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Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
Gaignard, Pauline, Gonzales, Emmanuel, Ackermann, Oanez, Labrune, Philippe, Correia, Isabelle, Therond, Patrice, Jacquemin, Emmanuel, Slama, Abdelhamid
Published in JIMD Reports - Volume 11 (01.01.2013)
Published in JIMD Reports - Volume 11 (01.01.2013)
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Book Chapter
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Hepatocellular Adenomas in Glycogen Storage Disease Type I and III: A Series of 43 Patients and Review of the Literature
Labrune, Philippe, Trioche, Pascale, Duvaltier, Isabelle, Chevalier, Paquita, Odièvre, Michel
Published in Journal of pediatric gastroenterology and nutrition (01.03.1997)
Published in Journal of pediatric gastroenterology and nutrition (01.03.1997)
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Severe pulmonary arterial hypertension in type 1 glycogen storage disease
Humbert, Marc, Labrune, Philippe, Simonneau, Gérald
Published in European journal of pediatrics (01.10.2002)
Published in European journal of pediatrics (01.10.2002)
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