Primary Hyperoxaluria

por Harambat, Jérôme, Fargue, Sonia, Bacchetta, Justine, Acquaviva, Cécile, Cochat, Pierre
Publicado 2011

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

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

por Fragaki, Konstantina, Chaussenot, Annabelle, Serre, Valerie, Acquaviva, Cecile, Bannwarth, Sylvie, Rouzier, Cecile, Chabrol, Brigitte, Paquis-Flucklinger, Veronique
Publicado 2019

Genetic assessment in primary hyperoxaluria: why it matters

por Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine, Groothoff, Jaap
Publicado 2022

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene

por Chkioua, Latifa, Khedhiri, Souhir, Grissa, Oussama, Aloui, Chaker, Turkia, Hadhami Ben, Ferchichi, Salima, Miled, Abdelhedi, Froissart, Roseline, Acquaviva, Cecile, Laradi, Sandrine
Publicado 2015

Inflammation-linked adaptations in dermal microvascular reactivity accompany the development of obesity and type 2 diabetes

por Nguyen-Tu, Marie-Sophie, Nivoit, Pierre, Oréa, Valérie, Lemoine, Sandrine, Acquaviva, Cécile, Pagnon-Minot, Aurélie, Fromy, Bérengère, Sethi, Jaswinder K., Sigaudo-Roussel, Dominique
Publicado 2018

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

por Carreau, Christophe, Lenglet, Timothée, Mosnier, Isabelle, Lahlou, Ghizlene, Fargeot, Guillaume, Weiss, Nicolas, Demeret, Sophie, Salachas, François, Veauville‐Merllié, Alice, Acquaviva, Cécile, Nadjar, Yann
Publicado 2020

An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

por Boutouchent, Nassim, Bourilhon, Julie, Sudrié-Arnaud, Bénédicte, Bonnevalle, Antoine, Guyant-Maréchal, Lucie, Acquaviva, Cécile, Dujardin-Ippolito, Loréna, Bekri, Soumeya, Dabaj, Ivana, Tebani, Abdellah
Publicado 2021

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

por Abily-Donval, Lenaig, Torre, Stéphanie, Samson, Aurélie, Sudrié-Arnaud, Bénédicte, Acquaviva, Cécile, Guerrot, Anne-Marie, Benoist, Jean-François, Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah
Publicado 2017

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

por Chautard, Robin, Laroche-Raynaud, Cécile, Lia, Anne-Sophie, Chazelas, Pauline, Derouault, Paco, Sturtz, Franck, Baaj, Yasser, Veauville-Merllié, Alice, Acquaviva, Cécile, Favreau, Frédéric, Faye, Pierre-Antoine
Publicado 2020

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

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation

por Quinaux, Thomas, Bertholet-Thomas, Aurélia, Servais, Aude, Boyer, Olivia, Vrillon, Isabelle, Hogan, Julien, Lemoine, Sandrine, Gaillard, Ségolène, Alioli, Candide, Vasseur, Sophie, Acquaviva, Cécile, Peyruchaud, Olivier, Machuca-Gayet, Irma, Bacchetta, Justine
Publicado 2021

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

por Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin
Publicado 2022

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

por Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Cécile, Benoist, Jean-François, Rabier, Daniel, Touati, Guy, de Lonlay, Pascale
Publicado 2013

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

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry

por Metry, Elisabeth L., Garrelfs, Sander F., Peters-Sengers, Hessel, Hulton, Sally-Anne, Acquaviva, Cecile, Bacchetta, Justine, Beck, Bodo B., Collard, Laure, Deschênes, Georges, Franssen, Casper, Kemper, Markus J., Lipkin, Graham W., Mandrile, Giorgia, Mohebbi, Nilufar, Moochhala, Shabbir H., Oosterveld, Michiel J.S., Prikhodina, Larisa, Hoppe, Bernd, Cochat, Pierre, Groothoff, Jaap W.
Publicado 2021

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

por Metry, Elisabeth L., Garrelfs, Sander F., Deesker, Lisa J., Acquaviva, Cecile, D’Ambrosio, Viola, Bacchetta, Justine, Beck, Bodo B., Cochat, Pierre, Collard, Laure, Hogan, Julien, Ferraro, Pietro Manuel, Franssen, Casper F.M., Harambat, Jérôme, Hulton, Sally-Anne, Lipkin, Graham W., Mandrile, Giorgia, Martin-Higueras, Cristina, Mohebbi, Nilufar, Moochhala, Shabbir H., Neuhaus, Thomas J., Prikhodina, Larisa, Salido, Eduardo, Topaloglu, Rezan, Oosterveld, Michiel J.S., Groothoff, Jaap W., Peters-Sengers, Hessel
Publicado 2023

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