Publications by authors named "Severine Ruet"

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Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.
Céline Renoux, Estelle Roland, Séverine Ruet, Sarah Zouaghi, Marie Michel

Int J Neonatal Screen· November 2024

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Functional and Molecular Characterization of New Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Julie Rochat, André Blavier, Séverine Ruet, Sophie Vasseur, Angela Puma

Genes (Basel)· May 2024

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Elastin turnover in Williams-Beuren and 7q11.23 microduplication syndromes.
Alexandre Guilhem, Severine Ruet, Patrick Edery, Cecile Acquaviva, Massimiliano Rossi

Eur Heart J Open· May 2024

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Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
Monique Piraud, Magali Pettazzoni, Pamela Lavoie, Séverine Ruet, Cécile Pagan

J Inherit Metab Dis· May 2018

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Polar lipid composition of bioactive dairy co-products buttermilk and butterserum: Emphasis on sphingolipid and ceramide isoforms.
Claire Bourlieu, David Cheillan, Marielle Blot, Patricia Daira, Michèle Trauchessec, Séverine Ruet

Food Chem· February 2018

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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet

PLoS One· September 2017

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Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.
Damien Bouvier, Christine Vianey-Saban, Séverine Ruet, Cécile Acquaviva

JIMD Rep· December 2016

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Amino acid profiling for the diagnosis of inborn errors of metabolism.
Monique Piraud, Séverine Ruet, Sylvie Boyer, Cécile Acquaviva, Pascale Clerc-Renaud

Methods Mol Biol· April 2011

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