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Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
J Inherit Metab Dis. 2018 May;41(3):457-477. doi: 10.1007/s10545-017-0126-3. Epub 2018 Mar 19.
J Inherit Metab Dis. 2018.
PMID: 29556840
Review.
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.
Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.
Pettazzoni M, et al. Among authors: ruet s.
PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.
PLoS One. 2017.
PMID: 28749998
Free PMC article.
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Amino acid profiling for the diagnosis of inborn errors of metabolism.
Piraud M, Ruet S, Boyer S, Acquaviva C, Clerc-Renaud P, Cheillan D, Vianey-Saban C.
Piraud M, et al. Among authors: ruet s.
Methods Mol Biol. 2011;708:25-53. doi: 10.1007/978-1-61737-985-7_2.
Methods Mol Biol. 2011.
PMID: 21207282
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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.
Bouvier D, Vianey-Saban C, Ruet S, Acquaviva C.
Bouvier D, et al. Among authors: ruet s.
JIMD Rep. 2017;35:71-78. doi: 10.1007/8904_2016_22. Epub 2016 Dec 10.
JIMD Rep. 2017.
PMID: 27943070
Free PMC article.
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Polar lipid composition of bioactive dairy co-products buttermilk and butterserum: Emphasis on sphingolipid and ceramide isoforms.
Bourlieu C, Cheillan D, Blot M, Daira P, Trauchessec M, Ruet S, Gassi JY, Beaucher E, Robert B, Leconte N, Bouhallab S, Gaucheron F, Gésan-Guiziou G, Michalski MC.
Bourlieu C, et al. Among authors: ruet s.
Food Chem. 2018 Feb 1;240:67-74. doi: 10.1016/j.foodchem.2017.07.091. Epub 2017 Jul 19.
Food Chem. 2018.
PMID: 28946327
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