Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations

por Injeyan, Maud, Bidault, Valeska, Bacchetta, Justine, Bertholet-Thomas, Aurélia
Publicado 2023

Lived experiences of patients with distal renal tubular acidosis treated with ADV7103 and of their caregivers: a qualitative study

por Acquadro, Michaël, Marrel, Alexia, Manso-Silván, Maria A., Guittet, Catherine, Joukoff, Sophie, Bertholet-Thomas, Aurélia
Publicado 2022

Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience

por Bernardor, Julie, Flammier, Sacha, Cabet, Sara, Lemoine, Sandrine, Chapurlat, Roland, Molin, Arnaud, Bertholet-Thomas, Aurélia, Bacchetta, Justine
Publicado 2021

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

Early-onset hypoparathyroidism and chronic keratitis revealing APECED

por Mezgueldi, Ellia, Bertholet-Thomas, Aurélia, Milazzo, Solange, Morris, Michael, Bacchetta, Justine, Fabien, Nicole, Cochat, Pierre, Weetman, Anthony P, Kemp, Elizabeth Helen, Belot, Alexandre
Publicado 2015

Young XLH Patients-Reported Experience with a Supportive Care Program

por Rothenbuhler, Anya, Gueorguieva, Iva, Lichtenberger-Geslin, Lydia, Audrain, Christelle, Soskin, Sylvie, Bensignor, Candace, Rossignol, Sylvie, Bertholet-Thomas, Aurélia, Naudeau, Lorelei, Bacchetta, Justine, Linglart, Agnès
Publicado 2023

Fluconazole in hypercalciuric patients with increased 1,25(OH)(2)D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial

por Bertholet-Thomas, Aurélia, Portefaix, Aurélie, Flammier, Sacha, Dhelens, Carole, Subtil, Fabien, Dubourg, Laurence, Laudy, Valérie, Le Bouar, Myrtille, Boussaha, Inesse, Ndiaye, Marietou, Molin, Arnaud, Lemoine, Sandrine, Bacchetta, Justine
Publicado 2022

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

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

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

por Gaildrat, Pascaline, Lebbah, Said, Tebani, Abdellah, Sudrié‐Arnaud, Bénédicte, Tostivint, Isabelle, Bollee, Guillaume, Tubeuf, Hélène, Charles, Thomas, Bertholet‐Thomas, Aurelia, Goldenberg, Alice, Barbey, Frederic, Martins, Alexandra, Saugier‐Veber, Pascale, Frébourg, Thierry, Knebelmann, Bertrand, Bekri, Soumeya
Publicado 2017

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

por Bertholet-Thomas, Aurélia, Berthiller, Julien, Tasic, Velibor, Kassai, Behrouz, Otukesh, Hasan, Greco, Marcella, Ehrich, Jochen, de Paula Bernardes, Rejane, Deschênes, Georges, Hulton, Sally-Ann, Fischbach, Michel, Soulami, Kenza, Saeed, Bassam, Valavi, Ehsan, Cobenas, Carlos Jose, Hacihamdioglu, Bülent, Weiler, Gabrielle, Cochat, Pierre, Bacchetta, Justine
Publicado 2017

Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care trea...

por Bertholet-Thomas, Aurélia, Guittet, Catherine, Manso-Silván, Maria A., Castang, Arnaud, Baudouin, Véronique, Cailliez, Mathilde, Di Maio, Massimo, Gillion-Boyer, Olivia, Golubovic, Emilija, Harambat, Jérôme, Klein, Alexandre, Knebelmann, Bertrand, Nobili, François, Novo, Robert, Podracka, Ludmila, Roussey-Kesler, Gwenaëlle, Stylianou, Christos, Granier, Luc-André
Publicado 2020

Safety, efficacy, and acceptability of ADV7103 during 24 months of treatment: an open-label study in pediatric and adult patients with distal renal tubular acidosis

por Bertholet-Thomas, Aurélia, Guittet, Catherine, Manso-Silván, Maria A., Joukoff, Sophie, Navas-Serrano, Victor, Baudouin, Véronique, Cailliez, Mathilde, Di Maio, Massimo, Gillion-Boyer, Olivia, Golubovic, Emilija, Harambat, Jérôme, Knebelmann, Bertrand, Nobili, François, Novo, Robert, Podracka, Ludmila, Roussey-Kesler, Gwenaëlle, Granier, Luc-André
Publicado 2021

Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial

por Kassai, Behrouz, Bouyé, Philippe, Gilbert-Dussardier, Brigitte, Godart, François, Thambo, Jean-Benoit, Rossi, Massimiliano, Cochat, Pierre, Chirossel, Pierre, Luong, Stephane, Serusclat, André, Canterino, Isabelle, Mercier, Catherine, Rabilloud, Muriel, Pivot, Christine, Pirot, Fabrice, Ginhoux, Tiphanie, Coopman, Stéphanie, Grenet, Guillaume, Gueyffier, François, Di-Fillippo, Sylvie, Bertholet-Thomas, Aurélia
Publicado 2019

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

por König, Jens Christian, Karsay, Rebeka, Gerß, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurélia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stéphane, Schanstra, Joost. P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Tönshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra, Konrad, Martin
Publicado 2022