Comments on Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D’Apolito et al. by François M Petit, Marylise Hébert, Vincent Gajdos, Alix Mollet-Boudjemline, Philippe Labrune

Get full text

Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome by François M. Petit, Marylise Hébert, Vincent Gajdos, Liliane Capel, Ridha M’Rad, Philippe Labrune

Get full text

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

Get full text

Growth development of French children born after in vitro maturation. by Laurence Foix-L'Hélias, Michael Grynberg, Béatrice Ducot, Nelly Frydman, Violaine Kerbrat, Jean Bouyer, Philippe Labrune

Get full text

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

Get full text

Impact of chest radiography for children with lower respiratory tract infection: a propensity score approach. by Emmanuelle Ecochard-Dugelay, Muriel Beliah, Caroline Boisson, Francis Perreaux, Jocelyne de Laveaucoupet, Philippe Labrune, Ralph Epaud, Hubert Ducou-Lepointe, Jean Bouyer, Vincent Gajdos

Get full text

French recommendations for the management of glycogen storage disease type III by Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Ariane Perry, François Petit, Catherine Voillot, Karim Wahbi, Joëlle Wenz, Pascal Laforêt, Philippe Labrune

Get full text

Effectiveness of chest physiotherapy in infants hospitalized with acute bronchiolitis: a multicenter, randomized, controlled trial. by Vincent Gajdos, Sandrine Katsahian, Nicole Beydon, Véronique Abadie, Loïc de Pontual, Sophie Larrar, Ralph Epaud, Bertrand Chevallier, Sylvain Bailleux, Alix Mollet-Boudjemline, Jean Bouyer, Sylvie Chevret, Philippe Labrune

Get full text

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort by Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M. Ruemmele, Pascale de Lonlay

Get full text

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment by Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti

Get full text