Search Results - "Tommy Gagnon"

Clinical utility of methionine restriction in adenosine kinase deficiency by Almuhsen, Najmah, Guay, Simon‐pierre, Lefrancois, Marie, Gauvin, Cheryl, Al Bahlani, AL Qasim, Ahmed, Najma, Saint‐Martin, Christine, Gagnon, Tommy, Waters, Paula, Braverman, Nancy, Buhas, D.

“…Adenosine kinase (ADK) deficiency is a rare autosomal recessive inborn error of metabolism involving the methionine and purine metabolic pathways. Prior…”
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Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trialResearch in context by Heather Pekeles, Saoussen Berrahmoune, Christelle Dassi, Anthony C.T. Cheung, Tommy Gagnon, Paula J. Waters, Ralf Eberhard, Daniela Buhas, Kenneth A. Myers

“…Background: DNA polymerase gamma (POLG)-related disorders are a group of rare neurodegenerative mitochondrial diseases caused by pathogenic variants in POLG,…”
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Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial by Pekeles, Heather, Berrahmoune, Saoussen, Dassi, Christelle, Cheung, Anthony C.T., Gagnon, Tommy, Waters, Paula J., Eberhard, Ralf, Buhas, Daniela, Myers, Kenneth A.

“…DNA polymerase gamma (POLG)-related disorders are a group of rare neurodegenerative mitochondrial diseases caused by pathogenic variants in POLG, the gene…”
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Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency by Yang, Hao, Al-Hertani, Walla, Cyr, Denis, Laframboise, Rachel, Parizeault, Guy, Wang, Shu Pei, Rossignol, Francis, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J, Mitchell, Grant A

“…A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by…”
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Simultaneous LC–MS/MS determination of sialic acid, pipecolic acid and piperideine-6-carboxylate in biological fluids, for diagnosis and monitoring of inherited metabolic disorders by Waters, Paula J., Cyr, Denis, Gagnon, Tommy, Al-Hertani, Walla, Bherer, Patrick

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A newborn with persistent mild elevations of succinylacetone in bloodspot, plasma and urine, without identified mutations in the FAH gene by Waters, Paula J., You, Lorette, Phommarinh, Keo, Yak, Sina, El Tarazi, Samar, Berthier, Marie-Thérèse, Giguère, Yves, Gagnon, Tommy, Cyr, Denis, Al-Hertani, Walla

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Synthesis of an Agonistic, Difluoro-Azido Photolabel of Angiotensin II and Labeling of the AT 1 Receptor: Transmembrane Domains 3, 6, and 7 Form the Ligand-Binding Pocket by GAGNON, TOMMY, FILLION, DANY, LEFEBVRE, MARIE-REINE, ESCHER, EMANUEL

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Modelisation causale et acausale d'un systeme electro-hydraulique by Gagnon, Tommy

“…In a context were time allotted to design need to be as short as possible to stay competitive, the systems to design are still gaining in complexity. In that…”
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Synthesis of an Agonistic, Difluoro-Azido Photolabel of Angiotensin II and Labeling of the AT1 Receptor: Transmembrane Domains 3, 6, and 7 Form the Ligand-Binding Pocket by GAGNON, TOMMY, FILLION, DANY, LEFEBVRE, MARIE-REINE, ESCHER, EMANUEL

“…p-Azido-phenylalanine has been frequently used for photoaffinity labeling of target proteins such as the angiotensin receptors. However, chemical studies…”
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Synthese et caracterisation d'un nouveau photomarqueur agoniste pour le recepteur humain AT1 by Gagnon, Tommy

“…Le Bpa et le p-N3Phe sont présentement les principaux groupements photoactivables utilisés dans les études de photomarquage sur les GPCRs. Ces groupements…”
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Clinical utility of methionine restriction in adenosine kinase deficiency by Almuhsen, Najmah, Guay, Simon-Pierre, Lefrancois, Marie, Gauvin, Cheryl, Al Bahlani, Al Qasim, Ahmed, Najma, Saint-Martin, Christine, Gagnon, Tommy, Waters, Paula, Braverman, Nancy, Buhas, D

“…Adenosine kinase (ADK) deficiency is a rare autosomal recessive inborn error of metabolism involving the methionine and purine metabolic pathways. Prior…”
Get full text