Severine Ruet
Bron, 69500, France
Last Updated: 09/26/2026
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Found 8 publications
Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.
Journal: Molecular genetics and metabolism
Published: March 07, 2026
Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.
Journal: International journal of neonatal screening
Published: September 24, 2024
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Journal: Genes
Published: March 29, 2024
Elastin turnover in Williams-Beuren and 7q11.23 microduplication syndromes.
Journal: European heart journal open
Published: January 10, 2024
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
Journal: Journal of inherited metabolic disease
Published: August 30, 2017
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.
Journal: PloS one
Published: March 22, 2017
Polar lipid composition of bioactive dairy co-products buttermilk and butterserum: Emphasis on sphingolipid and ceramide isoforms.
Journal: Food chemistry
Published: November 28, 2016
Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.
Journal: JIMD reports
Published: July 19, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026