Cécile Acquaviva Bourdain (Cécile Acquaviva, Cécile Acquaviva-Bourdain)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 13

Top Topics

Parkinson Disease

Genome Wide Analysis

Top Venues

European journal of human genetics : EJHG

Clinical kidney journal

International journal of neonatal screening

Diagnostics (Basel, Switzerland)

This page only lists publications with an associated author ORCID identifier.

Publications

Romain Pszczolinski, Cécile Acquaviva Bourdain, Insaf Berrahal, Nathalie Gouge-Biebuyck, Stephane Burtey, Karine Clabault, Claire Dossier, Matthieu Guillet, Floriane Hemery, Emmanuel Letavernier, Caroline Rousset-Rouvière, Justine Bacchetta, Bruno Moulin
Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay. Clinical kidney journal 17 (5) (2024)
Romain Pszczolinski, Cécile Acquaviva Bourdain, Insaf Berrahal, Nathalie Gouge-Biebuyck, Stephane Burtey, Karine Clabault, Claire Dossier, Matthieu Guillet, Floriane Hemery, Emmanuel Letavernier, Caroline Rousset-Rouvière, Justine Bacchetta, Bruno Moulin
Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay. Clinical kidney journal 17 (5) (2024)
Christine Vianey-Saban, Alain Fouilhoux, Jerry Vockley, Cécile Acquaviva Bourdain, Nathalie Guffon
Improving diagnosis of mitochondrial fatty-acid oxidation disorders. European journal of human genetics : EJHG (2023)
Charles R Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva Bourdain, David Cheillan
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France. International journal of neonatal screening 9 (1) (2023)
Christine Vianey-Saban, Alain Fouilhoux, Jerry Vockley, Cécile Acquaviva Bourdain, Nathalie Guffon
Improving diagnosis of mitochondrial fatty-acid oxidation disorders. European journal of human genetics : EJHG (2023)
Christine Vianey-Saban, Alain Fouilhoux, Jerry Vockley, Cécile Acquaviva Bourdain, Nathalie Guffon
Improving diagnosis of mitochondrial fatty-acid oxidation disorders. European journal of human genetics : EJHG 31 (3) (2023)
Christine Vianey-Saban, Alain Fouilhoux, Jerry Vockley, Cécile Acquaviva Bourdain, Nathalie Guffon
Improving diagnosis of mitochondrial fatty-acid oxidation disorders. European journal of human genetics : EJHG 31 (3) (2023)
Charles R Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva Bourdain, David Cheillan
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France. International journal of neonatal screening 9 (1) (2023)
Christine Vianey-Saban, Alain Fouilhoux, Jerry Vockley, Cécile Acquaviva Bourdain, Nathalie Guffon
Improving diagnosis of mitochondrial fatty-acid oxidation disorders. European journal of human genetics : EJHG 31 (3) (2023)
Christine Vianey-Saban, Alain Fouilhoux, Jerry Vockley, Cécile Acquaviva Bourdain, Nathalie Guffon
Improving diagnosis of mitochondrial fatty-acid oxidation disorders. European journal of human genetics : EJHG 31 (3) (2023)
Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva Bourdain, Corinne Métay, Isabelle Richard, Mathieu Cerino, Mathieu Milh, Emmanuelle Campana-Salort, Svetlana Gorokhova, Nicolas Levy, Xénia Latypova, Gisèle Bonne, Valérie Biancalana, François Petit, Annamaria Molon, Aurélien Perrin, Pascal Laforêt, Shahram Attarian, Martin Krahn, Mireille Cossee
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. International journal of molecular sciences 23 (15) (2022)
Thomas Quinaux, Aurélia Bertholet-Thomas, Aude Servais, Olivia Boyer, Isabelle Vrillon, Julien Hogan, Sandrine Lemoine, Ségolène Gaillard, Candide Alioli, Sophie Vasseur, Cécile Acquaviva Bourdain, Olivier Peyruchaud, Irma Machuca-Gayet, Justine Bacchetta
Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation. Cells 10 (9) (2021)
Nassim Boutouchent, Julie Bourilhon, Bénédicte Sudrié-Arnaud, Antoine Bonnevalle, Lucie Guyant-Maréchal, Cécile Acquaviva Bourdain, Loréna Dujardin-Ippolito, Soumeya Bekri, Ivana Dabaj, Abdellah Tebani
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency. Diagnostics (Basel, Switzerland) 11 (9) (2021)