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JIMD Reports|March 2, 2026
Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other HypersuccinylacetonemiasDenis Cyr, Bruno Maranda, Paula J WatersJIMD Reports|November 8, 2024
Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1Denis Cyr, Michel Boutin, Bruno Maranda, et al.Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|January 18, 2006
A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type IDenis Cyr, Robert Giguère, Gaëlle Villain, et al.Journal of Child Neurology|March 18, 2009
Clinical heterogeneity in ethylmalonic encephalopathyNicole Pigeon, Philippe M Campeau, Denis Cyr, et al.American Journal of Physiology. Endocrinology and Metabolism|June 24, 2005
On the suppression of plasma nonesterified fatty acids by insulin during enhanced intravascular lipolysis in humansAndré C Carpentier, Frédérique Frisch, Denis Cyr, et al.Molecular Genetics and Metabolism|December 18, 2022
The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errorsYoulin Wang, Hao Yang, Chloé Geerts, et al.American Journal of Physiology. Endocrinology and Metabolism|October 26, 2006
Mechanism of insulin-stimulated clearance of plasma nonesterified fatty acids in humansAndré C Carpentier, Frédérique Frisch, Pascal Brassard, et al.Molecular Genetics & Genomic Medicine|October 27, 2019
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from QuebecPaula J Waters, Baiba Lace, Daniela Buhas, et al.Molecular Genetics and Metabolism Reports|January 13, 2018
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH allelesHao Yang, Francis Rossignol, Denis Cyr, et al.Molecular Genetics and Metabolism|December 13, 2021
Propionic acidemia in mice: Liver acyl-CoA levels and clinical courseChen Zhao, Youlin Wang, Hao Yang, et al.Pageof 2