Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Marie Nowoczyn"'
Autor:
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour‐Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff
Publikováno v:
JIMD Reports, Vol 65, Iss 3, Pp 163-170 (2024)
Abstract Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (MTRR). Patients usually exhibit early‐onset bone ma
Externí odkaz:
https://doaj.org/article/75976a26610940dd92291d9485f6970b
Autor:
Arnaud Molin, Sandrine Lemoine, Martin Kaufmann, Pierre Breton, Marie Nowoczyn, Céline Ballandonne, Nadia Coudray, Hervé Mittre, Nicolas Richard, Amélie Ryckwaert, Alinoe Lavillaureix, Glenville Jones, Justine Bacchetta, Marie-Laure Kottler
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Mutations in CYP24A1 (vitamin D 24-hydroxylase) and SLC34A1 (renal phosphate transporter NPT2a) cause autosomal recessive Infantile Hypercalcemia type 1 and 2, illustrating links between vitamin D and phosphate metabolism. Patients may present with h
Externí odkaz:
https://doaj.org/article/1aa029400b4e4ef987c1856815b470cc
Autor:
Quentin Dupas, Nicolas Elie, Stéphane Allouche, Elise Camacho, Géza Tóth, Christophe Rochais, Caroline Martel, Marie Nowoczyn, Nicolas Marie
Publikováno v:
Neuropharmacology
Neuropharmacology, Elsevier, In press, 179, ⟨10.1016/j.neuropharm.2020.108286⟩
Neuropharmacology, Elsevier, In press, 179, ⟨10.1016/j.neuropharm.2020.108286⟩
International audience; Previously, we showed a differential regulation of the human delta-opioid receptor (hDOPr) by etorphine and [D-Pen2, D-Pen5] enkephalin (DPDPE). To understand the molecular basis of such differences, we introduced 3 alanine mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::349d9bb203a7c38d49e4ade99646ff02
https://hal.archives-ouvertes.fr/hal-03021820
https://hal.archives-ouvertes.fr/hal-03021820
Autor:
Marie Nowoczyn, Anne-Frédérique Dessein, Régine Minet-Quinard, Laetitia Van Noolen, Roselyne Garnotel, Cécile Acquaviva-Bourdain, Christelle Corne
Publikováno v:
Annales de biologie clinique. 78(5)
Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Organic acid chromatography allows the identification of several h
Autor:
Anne-Frédérique Dessein, Roselyne Garnotel, Laetitia Van Noolen, Marie Nowoczyn, Régine Minet-Quinard, Cécile Acquaviva-Bourdain, Marie-Hélène Read, Alice Veauville, Christelle Corne
Publikováno v:
Annales de biologie clinique. 78(5)
Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Amino acid chromatography allows the identification and quantifica
Autor:
Laetitia Van Noolen, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, Marie Nowoczyn, Régine Minet-Quinard, Roselyne Garnotel, Christelle Corne
Publikováno v:
Annales de biologie clinique. 78(5)
Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Acylcarnitine profile allows the identification and quantification
Autor:
François Vabret, Anne-Lise Pitel, Ludivine Ritz, Marie Nowoczyn, Hélène Beaunieux, Coralie Lannuzel, Céline Boudehent, Laurent Coulbault
Publikováno v:
Nutritional Neuroscience
Nutritional Neuroscience, Maney Publishing, 2019, ⟨10.1080/1028415X.2019.1652438⟩
Nutritional Neuroscience, Maney Publishing, 2019, ⟨10.1080/1028415X.2019.1652438⟩
Background: In this study, we investigated (1) the effect of chronic and excessive alcohol consumption on whole blood (WB) and serum concentrations of thiamine and its metabolites after supplementa...
Autor:
Nadia Coudray, Genevieve Abeguile, Mireille Castanet, Marie-Laure Kottler, Philippe Eckart, Arnaud Molin, Hervé Mittre, Nicolas Richard, Marie Nowoczyn, Celine Ballandone
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩
International audience; Loss-of-function mutations in CYP24A1 (MIM 126065 20q13.2), the gene encoding the 24-hydroxylase responsible for 25-OH-D and 1,25-(OH)2D degradation, are identified in about 20% of patients presenting Idiopathic Infantile Hype
Autor:
Marie Nowoczyn, René Rouet, Christophe Simard, Alain Manrique, Virginie Ferchaud, Anne-Flore Plane, Mathilda Simeon, Marie Brionne, Paolo Emilio Puddu, Jonaz Font, Paul Milliez, Stéphane Allouche, Joachim Alexandre
Publikováno v:
Fundamentalclinical pharmacology. 32(4)
Whether oral anticoagulants, vitamin K antagonists (VKAs), and nonvitamin K oral anticoagulant (NOACs) frequently prescribed to atrial fibrillation (AF) patients, do themselves have a pro- or anti-arrhythmic effect have never been addressed. Transmem
Autor:
Marie Nowoczyn, Eric Saloux, Anne-Flore Plane, Joachim Alexandre, Mathieu Chequel, Paul Milliez, Damien Legallois, Alain Manrique, Stéphane Allouche, Joe-Elie Salem, Paolo-Emilio Puddu, Katrien Blanchart, Vladimir Saplacan, Fabien Labombarda, Pierre Ollitrault, Marc-Olivier Fischer, Jean-Jacques Parienti, Dimitrios Buklas
Publikováno v:
Europe PubMed Central
Postoperative atrial fibrillation (POAF) is associated with poor outcomes after coronary artery bypass graft (CABG) surgery. We aimed to assess the additional value of preoperative plasma aldosterone levels, a biomarker promoting proarrhythmic and pr