Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Alice, Kuster"'
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:
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in
Externí odkaz:
https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1
Autor:
Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy
Publikováno v:
Redox Biology, Vol 58, Iss , Pp 102517- (2022)
Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by studying patients with respective genetic defects. We analyzed sulfur compounds (including
Externí odkaz:
https://doaj.org/article/c104284c656d4baba6f0fc3dc95350b4
Autor:
Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, Pascal Perrin, Pierre Rouyer, Thomas Josse, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loic De Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Rosa-Maria Rodriguez-Guéant, François Feillet, Jean-Louis Guéant, Fares Namour
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
Autor:
Raquel Sartori Gonçalves Dias, João Henrique Neves Soares, Douglas Dos Santos E Castro, Maria Alice Kuster de Albuquerque Gress, Marcela Lemos Machado, Pablo E Otero, Fabio Otero Ascoli
Publikováno v:
PLoS ONE, Vol 13, Iss 4, p e0195867 (2018)
The purpose of this study was to compare cardiovascular and respiratory effects of two volumes of bupivacaine 0.25% (0.2 mL kg-1-treatment BUP02-and 0.4 mL kg-1 -treatment BUP04) administered epidurally at the lumbosacral intervertebral space in dogs
Externí odkaz:
https://doaj.org/article/a7a637dc01e44b6bb18e9c5eb70902ed
Autor:
Tiffany Busa, Anaïs Brassier, Agathe Roubertie, Bénédicte Héron, M. Tardieu, Stéphane Marret, Roseline Froissart, Martine Doco-Fenzy, Céline Poirsier, Stéphanie Torre, Serge Rivera, Ivana Dabaj, Sabrina Vergnaud, Julien Baruteau, Marta Spodenkiewicz, Jean-Baptiste Arnoux, Bénédicte Sudrié-Arnaud, Brigitte Chabrol, Abdellah Tebani, Solaf M. Elsayed, Catherine Vanhulle, Sarah Snanoudj, Anne-Claire Brehin, Pascale Saugier-Veber, Aline Cano, Hélène Dranguet, Thierry Levade, Alice Goldenberg, Samia Pichard, Alice Kuster, Catherine Caillaud, Majed Al Khouri, Yves Alembik, Stéphanie Roggerone, Isabelle Desguerre, Nursel Elcioglu, François Labarthe, Sophie Coutant, Philippe Jouvencel, Bernard Drenou, Sandrine Roche, Laur Domitille, Alain Fouilhoux, Sabine Sigaudy, Christine Coubes, Soumeya Bekri, Leila Lazaro
Publikováno v:
Journal of Medical Genetics. 59:377-384
IntroductionThis study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).MethodsClinical and genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62616e04708166070973bed70796eea
https://doi.org/10.1136/jmedgenet-2020-107510
https://doi.org/10.1136/jmedgenet-2020-107510
Autor:
Oya Kuseyri Hübschmann, Natalia Alexandra Juliá‐Palacios, Mireia Olivella, Philipp Guder, Dimitrios I. Zafeiriou, Gabriella Horvath, Jan Kulhánek, Toni S. Pearson, Alice Kuster, Elisenda Cortès‐Saladelafont, Salvador Ibáñez, Maria Concepción García‐Jiménez, Tomáš Honzík, René Santer, Kathrin Jeltsch, Sven F. Garbade, Georg F. Hoffmann, Thomas Opladen, Ángeles García‐Cazorla
Publikováno v:
ANNALS OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Annals of Neurology
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Annals of Neurology
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
OBJECTIVE: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49798091e3d23f972b4bc9f9afbd72a
https://pubmed.ncbi.nlm.nih.gov/35616651
https://pubmed.ncbi.nlm.nih.gov/35616651
Autor:
Dominique Darmaun, Arnaud De Luca, Illa Tea, Alice Kuster, Régis Hankard, Jean-Christophe Rozé, Richard J. Robins
Publikováno v:
Isotopes in Environmental and Health Studies
Isotopes in Environmental and Health Studies, Taylor & Francis, 2021, 57 (1), pp.3-10. ⟨10.1080/10256016.2020.1817914⟩
Isotopes in Environmental and Health Studies, Taylor & Francis, 2021, 57 (1), pp.3-10. ⟨10.1080/10256016.2020.1817914⟩
International audience; N natural isotope abundance (NIA) is systematically higher in infants’ hair than in that of their mothers at birth. This study aimed to investigate this difference in plasma pools. We compared 15N NIA values for plasma amino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc3b7f902fb78b0e7675be8410a07e88
https://doi.org/10.1080/10256016.2020.1817914
https://doi.org/10.1080/10256016.2020.1817914
Autor:
Mehdi Oualha, Valérie Barbier, Bernadette Chadefaux-Vekemans, Aude Servais, Célina Roda, Guy Touati, Anaïs Brassier, Laurent Dupic, Marie-Thérèse Abi-Warde, Coraline Grisel, Clément Pontoizeau, Anna Kaminska, Vassili Valayannopoulos, Monika Eisermann, Carole Hennequin, Patricia Vignolo-Diard, Chris Ottolenghi, Pascale de Lonlay, Alice Kuster, Florence Habarou, Nathalie Boddaert, Fabrice Lesage, Jean-Baptiste Arnoux
Publikováno v:
Molecular Genetics and Metabolism. 130:110-117
Purpose We aimed to identify prognostic factors for survival and long-term intellectual and developmental outcome in neonatal patients with early-onset urea cycle disorders (UCD) experiencing hyperammonaemic coma. Methods We retrospectively analysed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cde5422863052cf235607b31fb5808e
https://doi.org/10.1016/j.ymgme.2020.03.003
https://doi.org/10.1016/j.ymgme.2020.03.003
Autor:
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Anais Brassier, Manuel Schiff, Samia Pichard, Alexandre Fabre, Celia Hoebeke, Nathalie Guffon, Alain Fouilhoux, Pierre Broué, Guy Touati, Dries Dobbelaere, Karine Mention, Francois Labarthe, Marine Tardieu, Loïc De Parscau, Francois Feillet, Chrystèle Bonnemains, Alice Kuster, Philippe Labrune, Magalie Barth, Lena Damaj, Delphine Lamireau, Julie Berbis, Pascal Auquier, Brigitte Chabrol
Publikováno v:
The Journal of Pediatrics
The Journal of Pediatrics, 2022, ⟨10.1016/j.jpeds.2022.08.060⟩
The Journal of Pediatrics, 2022, ⟨10.1016/j.jpeds.2022.08.060⟩
The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French population norms and investigate parental QoL determinants.This cross-section
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce7a23396a273909ff5c0688956b9df7
https://doi.org/10.1016/j.jpeds.2022.08.060
https://doi.org/10.1016/j.jpeds.2022.08.060