Zobrazeno 1 - 10
of 330
pro vyhledávání: '"A. Imbard"'
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:
Hortense de Calbiac, Sebastian Montealegre, Marjolène Straube, Solène Renault, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay
Publikováno v:
Autophagy Reports, Vol 3, Iss 1 (2024)
ABSTRACTPatients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. Autophagy functioning was analyzed in vitro, in primary skeletal myoblasts from TANGO2 patients, in basal a
Externí odkaz:
https://doaj.org/article/4aa5bc2b72924f759db819530d580f6e
Autor:
Dupuy, Gabrielle, Roux, Charles-Joris, Barrois, Rémi, Imbard, Apolline, Pontoizeau, Clément, Dangles, Marie Thérèse, Aubart, Mélodie, Arnoux, Jean-Baptiste, Margoses, Diane, Brassier, Anaïs, Marbach, Clothilde, Bérat, Claire-Marine, Sarda, Eugénie, Gitiaux, Cyril, de Lonlay, Pascale, Boddaert, Nathalie, Schiff, Manuel, Desguerre, Isabelle
Publikováno v:
In European Journal of Paediatric Neurology May 2024 50:6-15
Autor:
Busiah, Kanetee, Roda, Célina, Crosnier, Anne-Sophie, Brassier, Anaïs, Servais, Aude, Wicker, Camille, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Souberbielle, Jean-Claude, Piketty, Marie-Liesse, Perin, Laurence, Le Bouc, Yves, Arnoux, Jean-Baptiste, Netchine, Irène, Imbard, Apolline, de Lonlay, Pascale
Publikováno v:
In Molecular Genetics and Metabolism March 2024 141(3)
Autor:
Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through
Externí odkaz:
https://doaj.org/article/c41e870d385f45a7bab71242c1c3248d
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for more than 30 years
Externí odkaz:
https://doaj.org/article/3d1083b941db4e1ca40ed0a8d1a100c8
Autor:
Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100933- (2022)
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with acute forms presenting before six months
Externí odkaz:
https://doaj.org/article/06ee16d9c5f84e49b379a7616bb8c55f
Autor:
Imbard, Apolline1,2 (AUTHOR), Bouchereau, Juliette3 (AUTHOR), Arnoux, Jean-Baptiste3 (AUTHOR), Brassier, Anaïs3 (AUTHOR), Schiff, Manuel3,4,5 (AUTHOR), Bérat, Claire-Marine1,4 (AUTHOR), Pontoizeau, Clément1,4 (AUTHOR), Benoist, Jean-François1,2 (AUTHOR), Josse, Constant6 (AUTHOR), Montestruc, François6 (AUTHOR), de Lonlay, Pascale3,4,7 (AUTHOR) pascale.delonlay@aphp.fr
Publikováno v:
Orphanet Journal of Rare Diseases. 7/21/2023, Vol. 18 Issue 1, p1-12. 12p.