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Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Civit A, Gueguen P, Blasco H, Benz-de-Bretagne I, Lebredonchel É, Dingeo G, Jeanne M, Rouxel S, Tardieu M, Raynor A, Labarthe F, Bruneel A, Goetz V. Civit A, et al. Among authors: benz de bretagne i. Clin Chim Acta. 2023 Nov 1;551:117620. doi: 10.1016/j.cca.2023.117620. Epub 2023 Oct 29. Clin Chim Acta. 2023. PMID: 38375626
Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns.
Bruno C, Veyrat-Durebex C, Lumbu Lukuntonda CH, Andres CR, Moreau C, Bendavid C, Homedan C, Labarthe F, Tardieu M, Bigot A, Maillot F, Benz-de Bretagne I, Blasco H. Bruno C, et al. Clin Biochem. 2021 Jun;92:34-45. doi: 10.1016/j.clinbiochem.2021.03.004. Epub 2021 Mar 15. Clin Biochem. 2021. PMID: 33736999
An UPLC-MSMS method to measure plasma homocysteine concentration.
Vayne C, Deroche L, Drillaud N, Patin F, Bruno C, Maillot F, Labarthe F, Corcia P, Benz-de Bretagne I, Andres CR, Emond P, Blasco H. Vayne C, et al. Ann Biol Clin (Paris). 2017 Jun 1;75(3):334-338. doi: 10.1684/abc.2017.1248. Ann Biol Clin (Paris). 2017. PMID: 28540856 Free article. English.
Quantification of coproporphyrin isomers I and III in urine by HPLC and determination of their ratio for investigations of multidrug resistance protein 2 (MRP2) function in humans.
Respaud R, Benz-de Bretagne I, Blasco H, Hulot JS, Lechat P, Le Guellec C. Respaud R, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Nov 15;877(30):3893-8. doi: 10.1016/j.jchromb.2009.09.047. Epub 2009 Oct 8. J Chromatogr B Analyt Technol Biomed Life Sci. 2009. PMID: 19836315
45 results