Cécile Acquaviva-Bourdain

6PUBLICATIONS
24CO-AUTHORS
Respiratory diseasesInfant and child healthMetabolic medicineMedical molecular engineering of nucleic acids and proteinsAerospace engineering not elsewhere classified
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Publications (6)

|May 13, 2024
Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.

Romain Pszczolinski, Cécile Acquaviva, Insaf Berrahal

|Feb 22, 2023
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.

Charles R Lefèvre, François Labarthe, Diane Dufour

|Jan 04, 2023
Improving diagnosis of mitochondrial fatty-acid oxidation disorders.

Christine Vianey-Saban, Alain Fouilhoux, Jerry Vockley

|Aug 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.

Maude Vecten, Emmanuelle Pion, Marc Bartoli

|Sep 28, 2021
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.

Nassim Boutouchent, Julie Bourilhon, Bénédicte Sudrié-Arnaud

|Sep 28, 2021
Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.

Thomas Quinaux, Aurélia Bertholet-Thomas, Aude Servais

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Frequent Collaborators

1 joint publications

Olivia Boyer

1 joint publications

Olivier Peyruchaud

1 joint publications

Soumeya Bekri

1 joint publications

Ivana Dabaj