Výsledky vyhledávání - "Elise, Jeannesson"

Akademický článek

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

Autor: Maurane Theron, Elise Jeannesson, Marie Canton, Farès Namour, Abderrahim Oussalah, François Feillet, Arnaud Wiedemann

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)

Abstract The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement t

Externí odkaz: https://doaj.org/article/82326cd754784914ab622216e2bd3ab9

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Akademický článek

Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variabilityResearch in context

Publikováno v: EBioMedicine, Vol 99, Iss , Pp 104911- (2024)

Summary: Background: The high variability in clinical and metabolic presentations of inborn errors of cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in methylmalonyl-coA mutase (MUT) and methionine synthase (

Externí odkaz: https://doaj.org/article/2d3ab102cea844078b893c2d92774c33

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Akademický článek

The spectrum of biochemical alterations associated with organ dysfunction and inflammatory status and their association with disease outcomes in severe COVID-19: A longitudinal cohort and time-series design study

Publikováno v: EClinicalMedicine, Vol 27, Iss , Pp 100554- (2020)

Background: In patients with severe COVID-19, no data are available on the longitudinal evolution of biochemical abnormalities and their ability to predict disease outcomes. Methods: Using a retrospective, longitudinal cohort study design on consecut

Externí odkaz: https://doaj.org/article/e2149a7db628491d977b018dd8df1f08

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Akademický článek

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study

Publikováno v: EBioMedicine, Vol 51, Iss , Pp - (2020)

Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichme

Externí odkaz: https://doaj.org/article/f4615d7cffba4666a72a02f624b5ba23

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Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients

Autor: Elise Jeannesson, Julien Levy, Stéphane Ziuly, Rosa-Maria Rodriguez-Guéant, Jean-Louis Guéant, Abderrahim Oussalah, Denis Wahl

Publikováno v: American Journal of Clinical Nutrition
American Journal of Clinical Nutrition, American Society for Nutrition, 2021, 113 (5), pp.1157-1167. ⟨10.1093/ajcn/nqaa432⟩

International audience; ABSTRACT Background The association of moderate hyperhomocysteinemia (HHcy) (15–30 μmol/L) with cardiovascular diseases (CVD) has been challenged by the lack of benefit of vitamin supplementation to lowering homocysteine. C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4566f889eedf0a64e0972cf4adb769b
https://doi.org/10.1093/ajcn/nqaa432

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La phénylcétonurie

Autor: Jean-Louis Guéant, Elise Jeannesson, Abderrahim Oussalah, François Feillet, Arnaud Wiedemann

Publikováno v: médecine/sciences
médecine/sciences, EDP Sciences, 2020, 36 (8-9), pp.725-734. ⟨10.1051/medsci/2020127⟩

Le pronostic de la phénylcétonurie (PCU) a été transformé par le dépistage néonatal et la prise en charge diététique via un apport contrôlé en phénylalanine. Ce traitement doit être suivi toute la vie durant, ce qui pose des problèmes d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7a02c15c553658db913a9f18066d15
https://doi.org/10.1051/medsci/2020127

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[POCT-management during the first wave of Covid-19 in France. Results of a national survey leaded by the SFBC-POCT Working Group]

Autor: Ludovic, Glady, Valérie, Moal, Isabelle, Benz-De Bretagne, Damien, Bouvier, Flore, Di Giovanni, Camille, Chenevier-Gobeaux, Elise, Jeannesson, Emilie, Jolly, Habiba, Kadi, Nathalie, Oueidat, Pascal, Pernet, Laurence, Pieroni, Carole, Poupon, Marie, Toussaint-Hacquard, Mickaël, Dubos, Isabelle, Martinel, Emmanuelle, Chauzit, Marie-Christine, Beauvieux, Samuel, Zozor

Publikováno v: Annales de biologie clinique. 79(6)

During the first wave of Covid-19 in France, in spring 2020, healthcare institution's laboratory had to adapt itself quickly to the growing demand for emergency biology, in particular by reorganizing their POCT analyzers: redeployment of analyzers an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f4a57c2ce053fc3668ee7e830f40c8
https://pubmed.ncbi.nlm.nih.gov/34961737

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Newborn screening of phenylketonuria in France

Autor: Rosa-Maria Guéant-Rodriguez, Jean-Louis Guéant, Elise Jeannesson, François Feillet, Abderrahim Oussalah, Arnaud Wiedemann

Publikováno v: médecine/sciences
médecine/sciences, EDP Sciences, 2021, 37 (5), pp.468-473. ⟨10.1051/medsci/2021061⟩

Phenylketonuria is the most common inborn error of metabolism and causes irreversible mental retardation if left untreated. Its newborn screening was made possible by the technique of blood collection on filter paper developed by Robert Guthrie. Neon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad206ef29ca3a3b8e1795413cb42220
https://hal.science/hal-03229321/document

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