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Works (4)

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
2023-02 | Journal article | Author
Contributors: Charles LEFEVRE; François Labarthe; Diane Dufour; Caroline Moreau; Marie Faoucher; Paul Rollier; Jean-Baptiste Arnoux; Marine Tardieu; Léna Damaj; bendavid claude et al.
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Multidisciplinary Digital Publishing Institute

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

International Journal of Molecular Sciences
2022-07 | Journal article | Author
Contributors: Maude Vecten; Emmanuelle Pion; Bartoli Marc; Raul Juntas Morales; Damien Sternberg; John Rendu; Tanya Stojkovic; Cécile Acquaviva Bourdain; Corinne Métay; isabelle Richard et al.
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Multidisciplinary Digital Publishing Institute

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

Cells
2021-09 | Journal article | Author
Contributors: Thomas Quinaux; Aurélia Bertholet-Thomas; Aude Servais; Olivia Boyer; Isabelle Vrillon; Julien Hogan; Sandrine Lemoine; Ségolène Gaillard; Candide Alioli; Sophie Vasseur et al.
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Multidisciplinary Digital Publishing Institute

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

Diagnostics
2021-08 | Journal article | Author
Contributors: Nassim Boutouchent; Julie Bourilhon; Bénédicte Sudrié-Arnaud; Antoine Bonnevalle; Lucie Guyant-Maréchal; Cécile Acquaviva Bourdain; Loréna Dujardin-Ippolito; Soumeya Bekri; Ivana Dabaj; Abdellah TEBANI
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Multidisciplinary Digital Publishing Institute

Peer review (2 reviews for 2 publications/grants)

Review activity for European journal of human genetics (1)
Review activity for Molecular genetics and metabolism. (1)