Improving diagnosis of mitochondrial fatty-acid oxidation disorders

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

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

por Levrat, Virginie, Forest, Isabelle, Fouilhoux, Alain, Acquaviva, Cécile, Vianey-Saban, Christine, Guffon, Nathalie
Publicado 2008

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

por Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey‐Saban, Christine, Ruijter, George J. G.
Publicado 2022

Nephrolithiasis related to inborn metabolic diseases

por Cochat, Pierre, Pichault, Valérie, Bacchetta, Justine, Dubourg, Laurence, Sabot, Jean-François, Saban, Christine, Daudon, Michel, Liutkus, Aurélia
Publicado 2009

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

por Piraud, Monique, Pettazzoni, Magali, de Antonio, Marie, Vianey-Saban, Christine, Froissart, Roseline, Chabrol, Brigitte, Young, Sarah, Laforêt, Pascal
Publicado 2020

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

por Chkioua, Latifa, Khedhiri, Souhir, Kassab, Asma, Bibi, Amina, Ferchichi, Salima, Froissart, Roseline, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Publicado 2011

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

por Chkioua, Latifa, Khedhiri, Souhir, Ferchichi, Salima, Tcheng, Rémy, Chahed, Henda, Froissart, Roseline, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Publicado 2011

Glucose-6-phosphatase deficiency

por Froissart, Roseline, Piraud, Monique, Boudjemline, Alix Mollet, Vianey-Saban, Christine, Petit, François, Hubert-Buron, Aurélie, Eberschweiler, Pascale Trioche, Gajdos, Vincent, Labrune, Philippe
Publicado 2011

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

por Chkioua, Latifa, Khedhiri, Souhir, Turkia, Hadhami Ben, Tcheng, Rémy, Froissart, Roseline, Chahed, Henda, Ferchichi, Salima, Ben Dridi, Marie Françoise, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Publicado 2011

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

por Pettazzoni, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T., Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P., Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David
Publicado 2017

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

por Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile
Publicado 2019

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

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

por Curie, Aurore, Touil, Nathalie, Gaillard, Ségolène, Galanaud, Damien, Leboucq, Nicolas, Deschênes, Georges, Morin, Denis, Abad, Fanny, Luauté, Jacques, Bodenan, Eurielle, Roche, Laurent, Acquaviva, Cécile, Vianey-Saban, Christine, Cochat, Pierre, Cotton, François, Bertholet-Thomas, Aurélia
Publicado 2020

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

por Dessein, Anne-Frédérique, Fontaine, Monique, Andresen, Brage S, Gregersen, Niels, Brivet, Michèle, Rabier, Daniel, Napuri-Gouel, Silvia, Dobbelaere, Dries, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Briand, Gilbert, Millington, David S, Vianey-Saban, Christine, Wanders, Ronald JA, Vamecq, Joseph
Publicado 2010

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

por Mendes, Marisa I, Smith, Desirée EC, Pop, Ana, Lennertz, Pascal, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, van Dooren, Silvy JM, Anikster, Yair, Barić, Ivo, Boelen, Caroline, Campistol, Jaime, de Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T, Vianey‐Saban, Christine, Williams, Monique, Salomons, Gajja S
Publicado 2017

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

por Cheillan, David, Curt, Marie Joncquel-Chevalier, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Publicado 2012

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

por Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Publicado 2016