Hypophosphatasia: A Case of Two Patients With Spinal Cord Compression From Increase in Ligamentous Ossifications During Treatment

by Michel Laroche, Guillaume Couture, Marie Faruch, Adeline Ruyssen‐Witrand, Valérie Porquet‐Bordes, Jean Pierre Salles, Yannick Degboe
Published 2021-04-01

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and revie...

by Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard
Published 2021-12-01

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

by Coline Rouleau, Margaux Malorie, Corinne Collet, Valérie Porquet-Bordes, Isabelle Gennero, Sanaa Eddiry, Michel Laroche, Jean Pierre Salles, Guillaume Couture, Thomas Edouard
Published 2022-06-01

Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum

by Eugénie Koumakis, Valérie Cormier-Daire, Azeddine Dellal, Marc Debernardi, Bernard Cortet, Françoise Debiais, Rose-Marie Javier, Thierry Thomas, Nadia Mehsen-Cetre, Martine Cohen-Solal, Elisabeth Fontanges, Michel Laroche, Valérie Porquet-Bordes, Christian Marcelli, Alexandra Benachi, Karine Briot, Christian Roux, Catherine Cormier
Published 2022-01-01

A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta

by Wouter Nijhuis, Anton Franken, Kara Ayers, Chantal Damas, Lars Folkestad, Antonella Forlino, Paolo Fraschini, Claire Hill, Guus Janus, Richard Kruse, Lena Lande Wekre, Lieve Michiels, Kathleen Montpetit, Leonardo Panzeri, Valerie Porquet-Bordes, Frank Rauch, Ralph Sakkers, Jean-Pierre Salles, Oliver Semler, Jony Sun, Michael To, Laura Tosi, Yangyang Yao, Eric Hiu Kwong Yeung, Lidiia Zhytnik, Maria Carola Zillikens, Marjolein Verhoef
Published 2021-03-01