Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Marie-Thérèse Berthier"'
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 55-58 (2018)
Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacet
Externí odkaz:
https://doaj.org/article/95486fd6a0e04bf1be78ba0866a34b6f
Autor:
Demaret, Tanguy, Azuelos, Claudia, Hamdan, Fadi, Maftei, Catalina, Waters, Paula, Cyr, Denis, Allard, Pierre, Parente, Fabienne, Giguère, Yves, Marie-Thérèse Berthier, Aurey-Blais, Christiane, Champagne, Josette, Mitchell, Grant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fba7f9dd950e8464aee92f0eb65a534e
Autor:
Marie-Thérèse Berthier, Alain Houde, Mélanie Côté, Ann-Marie Paradis, Pascale Mauriège, Jean Bergeron, Daniel Gaudet, Jean-Pierre Després, Marie-Claude Vohl
Publikováno v:
Journal of Lipid Research, Vol 46, Iss 2, Pp 237-244 (2005)
The aim of this study was first to examine the relationships between adiponectin gene (Apm1) polymorphisms and anthropometric indices as well as plasma adiponectin and lipoprotein/lipid levels, and then to investigate whether the presence of visceral
Externí odkaz:
https://doaj.org/article/5b4eeecb8c8e4d8ba00fad34fdc3cfee
Autor:
Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Rachel Laframboise, Jean-François Soucy, Denis Cyr, Grant A. Mitchell, Hao Yang, Francis Rossignol, Shu Pei Wang
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 55-58 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700 ). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44669ac539c818d7481cfd5651fb525c
https://doi.org/10.1016/j.ymgmr.2017.12.002
https://doi.org/10.1016/j.ymgmr.2017.12.002
Autor:
Yves, Giguère, Marie-Thérèse, Berthier
Publikováno v:
Advances in experimental medicine and biology. 959
Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. If untreated, its acute form is characterized by hepatic failure, renal dysfunction and neurological crisis, and ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::15f76b2655455d23ab36670b41a42593
https://pubmed.ncbi.nlm.nih.gov/28755192
https://pubmed.ncbi.nlm.nih.gov/28755192
Autor:
Marie-Thérèse Berthier, Yves Giguère
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319557793
Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. If untreated, its acute form is characterized by hepatic failure, renal dysfunction and neurological crisis, and ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1e960a82b54182d47a8f419b2bd384a
https://doi.org/10.1007/978-3-319-55780-9_13
https://doi.org/10.1007/978-3-319-55780-9_13
Autor:
Guy Van Vliet, Marie-Thérèse Berthier, Cheri Deal, Mohamad Sharkia, Johnny Deladoëy, Stéphanie Michaud, Laura Stewart, Jean-Pierre Chanoine, Yves Giguère
Publikováno v:
The Journal of Pediatrics. 163:800-805
Objectives To describe the response of thyroid-stimulating hormone (TSH) to thyroid-releasing hormone in children and adolescents with Prader-Willi syndrome (PWS), and to compare TSH and total thyroxine (TT4) concentrations measured on neonatal scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0b95f47660fe83a7f60d057c0b5ddf
https://doi.org/10.1016/j.jpeds.2013.03.058
https://doi.org/10.1016/j.jpeds.2013.03.058
Autor:
Hao Yang, Paula J. Waters, Denis Cyr, Grant A. Mitchell, Walla Al-Hertani, Shu Pei Wang, Marie-Thérèse Berthier, Francis Rossignol, Rachel Laframboise, Guy Parizeault, Yves Giguère
Publikováno v:
Journal of medical genetics. 54(4)
Background 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 deficiency of fumarylacetoacetate hydrolase (FAH). Newborns with HT1 are usually
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5548fe52b5598c434a1b878824efb02
https://pubmed.ncbi.nlm.nih.gov/27876694
https://pubmed.ncbi.nlm.nih.gov/27876694
Autor:
Guillaume Dolley, Jean-Pierre Després, Marie-Claude Vohl, Marie-Thérèse Berthier, Louis Pérusse, Benoît Lamarche, Claude Bouchard
Publikováno v:
Atherosclerosis. 195:297-302
The small, dense LDL phenotype is associated with an increased cardiovascular disease risk. A genome-wide scan performed on 236 nuclear families of the Quebec Family Study (QFS) revealed a quantitative trait locus (QTL) affecting LDL peak particle si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c6eb2724dd1b736e64219d83969e31
https://doi.org/10.1016/j.atherosclerosis.2007.01.002
https://doi.org/10.1016/j.atherosclerosis.2007.01.002
Autor:
Alain Houde, Marie-Thérèse Berthier, Jean-Pierre Després, Marie-Claude Vohl, Pascale Mauriège, Mélanie Côté, Daniel Gaudet, Jean Bergeron, Ann-Marie Paradis
Publikováno v:
Journal of Lipid Research, Vol 46, Iss 2, Pp 237-244 (2005)
The aim of this study was first to examine the relationships between adiponectin gene (Apm1) polymorphisms and anthropometric indices as well as plasma adiponectin and lipoprotein/lipid levels, and then to investigate whether the presence of visceral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb4be4d928cca7ddc293177d40031951
https://doi.org/10.1194/jlr.m400135-jlr200
https://doi.org/10.1194/jlr.m400135-jlr200