Canlyniadau Chwilio - Labrune, Philippe

Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome gan Sellier, Anne Laure, Labrune, Philippe, Kwon, Theresa, Boudjemline, Alix Mollet, Deschènes, Georges, Gajdos, Vincent

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Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases gan Gaignard, Pauline, Gonzales, Emmanuel, Ackermann, Oanez, Labrune, Philippe, Correia, Isabelle, Therond, Patrice, Jacquemin, Emmanuel, Slama, Abdelhamid

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Growth Development of French Children Born after In Vitro Maturation gan Foix-L’Hélias, Laurence, Grynberg, Michael, Ducot, Béatrice, Frydman, Nelly, Kerbrat, Violaine, Bouyer, Jean, Labrune, Philippe

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Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia gan Perry, Ariane, Douillard, Claire, Jonca, Frederic, Glowacki, Francois, Leroy, Xavier, Caveriviere, Paul, Hubert, Aurélie, Labrune, Philippe

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Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4 gan Bondurand, Nadége, Fouquet, Virginie, Baral, Viviane, Lecerf, Laure, Loundon, Natalie, Goossens, Michel, Duriez, Benedicte, Labrune, Philippe, Pingault, Veronique

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Clinical predictors of radiographic abnormalities among infants with bronchiolitis in a paediatric emergency department gan Ecochard-Dugelay, Emmanuelle, Beliah, Muriel, Perreaux, Francis, de Laveaucoupet, Jocelyne, Bouyer, Jean, Epaud, Ralph, Labrune, Philippe, Ducou-Lepointe, Hubert, Gajdos, Vincent

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Glucose-6-phosphatase deficiency gan Froissart, Roseline, Piraud, Monique, Boudjemline, Alix Mollet, Vianey-Saban, Christine, Petit, François, Hubert-Buron, Aurélie, Eberschweiler, Pascale Trioche, Gajdos, Vincent, Labrune, Philippe

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Puberty and fertility in classic galactosemia gan Flechtner, Isabelle, Viaud, Magali, Kariyawasam, Dulanjalee, Perrissin-Fabert, Marie, Bidet, Maud, Bachelot, Anne, Touraine, Philippe, Labrune, Philippe, de Lonlay, Pascale, Polak, Michel

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Impact of Chest Radiography for Children with Lower Respiratory Tract Infection: A Propensity Score Approach gan Ecochard-Dugelay, Emmanuelle, Beliah, Muriel, Boisson, Caroline, Perreaux, Francis, de Laveaucoupet, Jocelyne, Labrune, Philippe, Epaud, Ralph, Ducou-Lepointe, Hubert, Bouyer, Jean, Gajdos, Vincent

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Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease gan Armanet, Narjes, Metay, Corinne, Brisset, Sophie, Deschenes, Georges, Pineau, Dominique, Petit, François M, Di Rocco, Federico, Goossens, Michel, Tachdjian, Gérard, Labrune, Philippe, Tosca, Lucie

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A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome gan Petit, François M, Hébert, Marylise, Picone, Olivier, Brisset, Sophie, Maurin, Marie-Laure, Parisot, Frédéric, Capel, Liliane, Benattar, Clarisse, Sénat, Marie-Victoire, Tachdjian, Gérard, Labrune, Philippe

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Perioperative Management of Hemostasis for Surgery of Benign Hepatic Adenomas in Patients with Glycogen Storage Disease Type Ia gan 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

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Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy gan Monteillet, Laure, Labrune, Philippe, Hochuli, Michel, Do Cao, Jeremy, Tortereau, Antonin, Miliano, Alexane Cannella, Ardon-Zitoun, Carine, Duchampt, Adeline, Silva, Marine, Verzieux, Vincent, Mithieux, Gilles, Rajas, Fabienne

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Effectiveness of Chest Physiotherapy in Infants Hospitalized with Acute Bronchiolitis: A Multicenter, Randomized, Controlled Trial gan 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

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Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort gan 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

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Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism gan Tosca, Lucie, Brisset, Sophie, Petit, François M, Lecerf, Laure, Rousseau, Ghislaine, Bas, Cécile, Laroudie, Mireille, Maurin, Marie-Laure, Tapia, Sylvie, Picone, Olivier, Prevot, Sophie, Goossens, Michel, Labrune, Philippe, Tachdjian, Gérard

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Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 gan Brisset, Sophie, Slamova, Zuzana, Dusatkova, Petra, Briand-Suleau, Audrey, Milcent, Karen, Metay, Corinne, Simandlova, Martina, Sumnik, Zdenek, Tosca, Lucie, Goossens, Michel, Labrune, Philippe, Zemankova, Elsa, Lebl, Jan, Tachdjian, Gerard, Sedlacek, Zdenek

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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome gan 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.

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Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler–Najjar Syndrome gan 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

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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs gan 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

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