Search Results - Marie Faoucher

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    Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism by Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva

    Published in Molecular Genetics and Metabolism Reports (2019-12-01)
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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 by 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

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