SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
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Published in The New England journal of medicine (25.02.2016)
Published in The New England journal of medicine (25.02.2016)
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Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy
Scheidecker, Sophie, Bär, Séverine, Stoetzel, Corinne, Geoffroy, Véronique, Lannes, Béatrice, Rinaldi, Bruno, Fischer, Frédéric, Becker, Hubert D., Pelletier, Valérie, Pagan, Cécile, Acquaviva‐Bourdain, Cécile, Kremer, Stéphane, Mirande, Marc, Tranchant, Christine, Muller, Jean, Friant, Sylvie, Dollfus, Hélène
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants
Méaux, Marie-Noëlle, Sellier-Leclerc, Anne-Laure, Acquaviva-Bourdain, Cécile, Harambat, Jérôme, Allard, Lise, Bacchetta, Justine
Published in Pediatric nephrology (Berlin, West) (01.04.2022)
Published in Pediatric nephrology (Berlin, West) (01.04.2022)
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Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series
Lefèvre, Charles R., Collardeau‐Frachon, Sophie, Streichenberger, Nathalie, Berenguer‐Martin, Sophie, Clémenson, Alix, Massardier, Jérôme, Prieur, Fabienne, Laurichesse, Hélène, Laffargue, Fanny, Acquaviva‐Bourdain, Cécile, Froissart, Roseline, Pettazzoni, Magali
Published in Journal of inherited metabolic disease (01.03.2024)
Published in Journal of inherited metabolic disease (01.03.2024)
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Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy
Machuca-Gayet, Irma, Quinaux, Thomas, Bertholet-Thomas, Aurélia, Gaillard, Ségolène, Claramunt-Taberner, Débora, Acquaviva-Bourdain, Cécile, Bacchetta, Justine
Published in International journal of molecular sciences (01.05.2020)
Published in International journal of molecular sciences (01.05.2020)
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Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein
Oerum, Stephanie, Roovers, Martine, Leichsenring, Michael, Acquaviva-Bourdain, Cécile, Beermann, Frauke, Gemperle-Britschgi, Corinne, Fouilhoux, Alain, Korwitz-Reichelt, Anne, Bailey, Henry J., Droogmans, Louis, Oppermann, Udo, Sass, Jörn Oliver, Yue, Wyatt W.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2017)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2017)
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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes
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
Published in BMC medicine (28.03.2022)
Published in BMC medicine (28.03.2022)
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
Vecten, Maude, Pion, Emmanuelle, Bartoli, Marc, Morales, Raul Juntas, Sternberg, Damien, Rendu, John, Stojkovic, Tanya, Bourdain, Cécile Acquaviva, Métay, Corinne, Richard, Isabelle, Cerino, Mathieu, Milh, Mathieu, Campana-Salort, Emmanuelle, Gorokhova, Svetlana, Levy, Nicolas, Latypova, Xénia, Bonne, Gisèle, Biancalana, Valérie, Petit, François, Molon, Annamaria, Perrin, Aurélien, Laforêt, Pascal, Attarian, Shahram, Krahn, Martin, Cossée, Mireille
Published in International journal of molecular sciences (01.08.2022)
Published in International journal of molecular sciences (01.08.2022)
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Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs
Gaillard, Segolene, Roche, Laurent, Lemoine, Sandrine, Deschênes, Georges, Morin, Denis, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile, Ranchin, Bruno, Bacchetta, Justine, Kassai, Behrouz, Nony, Patrice, Bodénan, Eurielle, Laudy, Valérie, Rouges, Cécile, Zarrabian, Setareh, Subtil, Fabien, Mercier, Catherine, Cochat, Pierre, Bertholet-Thomas, Aurélia
Published in Pediatric nephrology (Berlin, West) (01.03.2021)
Published in Pediatric nephrology (Berlin, West) (01.03.2021)
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Membrane-bound CYB5R3 is a common effector of nutritional and oxidative stress response through FOXO3a and Nrf2
Siendones, Emilio, SantaCruz-Calvo, Sara, Martín-Montalvo, Alejandro, Cascajo, María V, Ariza, Julia, López-Lluch, Guillermo, Villalba, José M, Acquaviva-Bourdain, Cécile, Roze, Emmanuel, Bernier, Michel, de Cabo, Rafael, Navas, Plácido
Published in Antioxidants & redox signaling (20.10.2014)
Published in Antioxidants & redox signaling (20.10.2014)
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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, Schiff, Manuel
Published in Journal of inherited metabolic disease (01.05.2017)
Published in Journal of inherited metabolic disease (01.05.2017)
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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
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
Published in International journal of neonatal screening (01.02.2023)
Published in International journal of neonatal screening (01.02.2023)
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Primary mitochondrial disorders and mimics: Insights from a large French cohort
Rouzier, Cécile, Pion, Emmanuelle, Chaussenot, Annabelle, Bris, Céline, Ait‐El‐Mkadem Saadi, Samira, Desquiret‐Dumas, Valérie, Gueguen, Naïg, Fragaki, Konstantina, Amati‐Bonneau, Patrizia, Barcia, Giulia, Gaignard, Pauline, Steffann, Julie, Pennisi, Alessandra, Bonnefont, Jean‐Paul, Lebigot, Elise, Bannwarth, Sylvie, Francou, Bruno, Rucheton, Benoit, Sternberg, Damien, Martin‐Negrier, Marie‐Laure, Trimouille, Aurélien, Hardy, Gaëlle, Allouche, Stéphane, Acquaviva‐Bourdain, Cécile, Pagan, Cécile, Lebre, Anne‐Sophie, Reynier, Pascal, Cossee, Mireille, Attarian, Shahram, Paquis‐Flucklinger, Véronique, Procaccio, Vincent
Published in Annals of clinical and translational neurology (01.06.2024)
Published in Annals of clinical and translational neurology (01.06.2024)
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Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type
Mandrile, Giorgia, van Woerden, Christiaan S., Berchialla, Paola, Beck, Bodo B., Acquaviva Bourdain, Cécile, Hulton, Sally-Anne, Rumsby, Gill
Published in Kidney international (01.12.2014)
Published in Kidney international (01.12.2014)
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Angelman syndrome and isovaleric acidemia: What is the link?
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
Published in Molecular genetics and metabolism reports (01.06.2015)
Published in Molecular genetics and metabolism reports (01.06.2015)
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Isolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases
Sellier-Leclerc, Anne-Laure, Metry, Elisabeth, Clave, Stéphanie, Perrin, Peggy, Acquaviva-Bourdain, Cécile, Levi, Charlène, Crop, Meindert, Caillard, Sophie, Moulin, Bruno, Groothoff, Jaap, Bacchetta, Justine
Published in Nephrology, dialysis, transplantation (13.02.2023)
Published in Nephrology, dialysis, transplantation (13.02.2023)
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Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria
Kayal, Dima, Vedrine, Enzo, Goursaud, Claire, Sellier-Leclerc, Anne-Laure, Acquaviva-Bourdain, Cécile, Bertholet-Thomas, Aurelia, Bacchetta, Justine
Published in Pediatric nephrology (Berlin, West) (01.08.2024)
Published in Pediatric nephrology (Berlin, West) (01.08.2024)
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