Primary hyperoxaluria type 1: pathophysiology and genetics

por Fargue, Sonia, Acquaviva Bourdain, Cécile
Publicado 2022

Improving diagnosis of mitochondrial fatty-acid oxidation disorders

por Vianey-Saban, Christine, Fouilhoux, Alain, Vockley, Jerry, Acquaviva-Bourdain, Cécile, Guffon, Nathalie
Publicado 2023

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy

por Machuca-Gayet, Irma, Quinaux, Thomas, Bertholet-Thomas, Aurélia, Gaillard, Ségolène, Claramunt-Taberner, Débora, Acquaviva-Bourdain, Cécile, Bacchetta, Justine
Publicado 2020

Plasma oxalate: comparison of methodologies

por Stokes, Felicity, Acquaviva-Bourdain, Cecile, Hoppe, Bernd, Lieske, John C., Lindner, Elisabeth, Toulson, Greg, Vaz, Frédéric M., Rumsby, Gill
Publicado 2020

Angelman syndrome and isovaleric acidemia: What is the link?

por Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel
Publicado 2015

Monitoring of asparagine depletion and anti-l-asparaginase antibodies in adult acute lymphoblastic leukemia treated in the pediatric-inspired GRAALL-2005 trial

por Paillassa, Jérôme, Leguay, Thibaut, Thomas, Xavier, Huguet, Françoise, Audrain, Marie, Lheritier, Véronique, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile, Pagan, Cécile, Dombret, Hervé, Ifrah, Norbert, Boissel, Nicolas, Hunault-Berger, Mathilde
Publicado 2018

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

por Lefèvre, Charles R., Labarthe, François, Dufour, Diane, Moreau, Caroline, Faoucher, Marie, Rollier, Paul, Arnoux, Jean-Baptiste, Tardieu, Marine, Damaj, Léna, Bendavid, Claude, Dessein, Anne-Frédérique, Acquaviva-Bourdain, Cécile, Cheillan, David
Publicado 2023

Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes

por Gautheron, Jérémie, Lima, Lara, Akinci, Baris, Zammouri, Jamila, Auclair, Martine, Ucar, Sema Kalkan, Ozen, Samim, Altay, Canan, Bax, Bridget E., Nemazanyy, Ivan, Lenoir, Véronique, Prip-Buus, Carina, Acquaviva-Bourdain, Cécile, Lascols, Olivier, Fève, Bruno, Vigouroux, Corinne, Noel, Esther, Jéru, Isabelle
Publicado 2022

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

por Durel, Cécile-Audrey, Aouba, Achille, Bienvenu, Boris, Deshayes, Samuel, Coppéré, Brigitte, Gombert, Bruno, Acquaviva-Bourdain, Cécile, Hachulla, Eric, Lecomte, Frédéric, Touitou, Isabelle, Ninet, Jacques, Philit, Jean-Baptiste, Messer, Laurent, Brouillard, Marc, Girard-Madoux, Marie-Hélène, Moutschen, Michel, Raison-Peyron, Nadia, Hutin, Pascal, Duffau, Pierre, Trolliet, Pierre, Hatron, Pierre-Yves, Heudier, Philippe, Cevallos, Ramiro, Lequerré, Thierry, Brousse, Valentine, Lesire, Vincent, Audia, Sylvain, Maucort-Boulch, Delphine, Cuisset, Laurence, Hot, Arnaud
Publicado 2016