Bibliotecas PUC-SP - Busca Integrada

Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1

von Denis Cyr, Michel Boutin, Bruno Maranda, Paula J. Waters
Veröffentlicht in JIMD Reports (2024-11-01)

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

von Paula J. Waters, Baiba Lace, Daniela Buhas, Serge Gravel, Denis Cyr, Renée‐Myriam Boucher, Geneviève Bernard, Sébastien Lévesque, Bruno Maranda
Veröffentlicht in Molecular Genetics & Genomic Medicine (2019-12-01)

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

von Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell
Veröffentlicht in Molecular Genetics and Metabolism Reports (2018-03-01)

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

von Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Chantale Aubut, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Jessica Tardif, Julie Thompson Legault, Nancy Tremblay, Vanessa Tremblay-Vaillancourt, Luc Vachon, Josée Villeneuve
Veröffentlicht in Cell Reports (2015-11-01)