Publications by authors named "Denis Cyr"

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Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1.
Denis Cyr, Michel Boutin, Bruno Maranda, Paula J Waters

JIMD Rep· November 2024

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In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1.
Jean-François Rivest, Sophie Carter, Claudia Goupil, Pénélope Antérieux, Denis Cyr

Genetics· October 2024

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The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors.
Youlin Wang, Hao Yang, Chloé Geerts, Alexandra Furtos, Paula Waters, Denis Cyr

Mol Genet Metab· January 2023

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Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.
Chen Zhao, Youlin Wang, Hao Yang, Shupei Wang, Marie-Christine Tang, Denis Cyr

Mol Genet Metab· January 2022

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Versatile and robust genome editing with CRISPR1-Cas9.
Daniel Agudelo, Sophie Carter, Minja Velimirovic, Alexis Duringer, Jean-François Rivest, Denis Cyr

Genome Res· January 2020

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HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Paula J Waters, Baiba Lace, Daniela Buhas, Serge Gravel, Denis Cyr

Mol Genet Genomic Med· December 2019

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Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient alleles.
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang

Mol Genet Metab Rep· March 2018

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Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
Hao Yang, Walla Al-Hertani, Denis Cyr, Rachel Laframboise, Guy Parizeault

J Med Genet· April 2017

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A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome.
Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Denis Cyr

Cell Rep· November 2015

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, Mahera Abdulrahman, Ona Adair, Denis Cyr

Genet Med· March 2011

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Clinical heterogeneity in ethylmalonic encephalopathy.
Nicole Pigeon, Philippe M Campeau, Denis Cyr, Bernard Lemieux, Joe T R Clarke

J Child Neurol· August 2009

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Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
Christiane Auray-Blais, Denis Cyr, Aimé Ntwari, Michael L West, Josanne Cox-Brinkman

Mol Genet Metab· March 2008

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Mechanism of insulin-stimulated clearance of plasma nonesterified fatty acids in humans.
André C Carpentier, Frédérique Frisch, Pascal Brassard, François Lavoie, Annie Bourbonnais, Denis Cyr

Am J Physiol Endocrinol Metab· March 2007

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A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I.
Denis Cyr, Robert Giguère, Gaëlle Villain, Bernard Lemieux, Régen Drouin

J Chromatogr B Analyt Technol Biomed Life Sci· February 2006

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On the suppression of plasma nonesterified fatty acids by insulin during enhanced intravascular lipolysis in humans.
André C Carpentier, Frédérique Frisch, Denis Cyr, Philippe Généreux, Bruce W Patterson

Am J Physiol Endocrinol Metab· November 2005

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