Zobrazeno 1 - 10
of 191
pro vyhledávání: '"Aude SERVAIS"'
Autor:
Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao, Pascale de Lonlay
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Patients with maple syrup urine disease (MSUD) experiencing metabolic decompensations have traditionally been treated with branched-chain amino acid (BCAA)-free mixture via oral or nasogastric administration routes. In some patien
Externí odkaz:
https://doaj.org/article/8f59208a49e64da6bb37d62f57cb423c
Autor:
Alice Corthier, Marie Jachiet, Daniel Bertin, Aude Servais, Christelle Barbet, Adrien Bigot, Marie-Sylvie Doutre, Didier Bessis, Ancuta Bouffandeau, Olivier Moranne, Pierre-André Jarrot, Nathalie Bardin, Benjamin Terrier, Stephane Burtey, Xavier Puéchal, Laurent Daniel, Noémie Jourde-Chiche
Publikováno v:
BMC Nephrology, Vol 23, Iss 1, Pp 1-12 (2022)
Abstract Background Hypocomplementemic urticarial vasculitis (HUV) is a rare systemic vasculitis. We aimed to describe the kidney involvement of HUV in a multicenter national cohort with an extended follow-up. Methods All patients with HUV (internati
Externí odkaz:
https://doaj.org/article/a47ebc38314743829b9a693ba7d5459b
Autor:
Roman-Ulrich Müller, A. Lianne Messchendorp, Henrik Birn, Giovambattista Capasso, Emilie Cornec-Le Gall, Olivier Devuyst, Albertien van Eerde, Patrick Guirchoun, Tess Harris, Ewout J. Hoorn, Nine V.A.M. Knoers, Uwe Korst, Djalila Mekahli, Yannick Le Meur, Tom Nijenhuis, Albert C.M. Ong, John A. Sayer, Franz Schaefer, Aude Servais, Vladimir Tesar, Roser Torra, Stephen B. Walsh and Ron T. Gansevoort
Publikováno v:
Počki, Vol 11, Iss 1, Pp 37-39 (2022)
No abstract
Externí odkaz:
https://doaj.org/article/3f3763f45a78472d9048eb2d6d9503c1
Autor:
Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer, Tanja Kersnik Levart, Jack Wetzels, Elisabeth Cornelissen, Olivier Devuyst, Aleksandra Zurowska, Lars Pape, Anja Buescher, Dieter Haffner, Natasa Marcun Varda, Gian Marco Ghiggeri, Giuseppe Remuzzi, Martin Konrad, Germana Longo, Detlef Bockenhauer, Atif Awan, Ilze Andersone, Jaap W. Groothoff, Franz Schaefer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological in
Externí odkaz:
https://doaj.org/article/298d7b2d56344d9ab3fa1ca68f07142f
Autor:
Pascale de Lonlay, Roland Posset, Ulrike Mütze, Karine Mention, Delphine Lamireau, Manuel Schiff, Aude Servais, Jean Baptiste Arnoux, Anaïs Brassier, Myriam Dao, Claire Douillard, Chris Ottolenghi, Clément Pontoizeau, Federica Miotto, Jeannie Le Mouhaër
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 110-119 (2021)
Abstract Maple syrup urine disease (MSUD) is a rare inborn metabolic disorder, managed with a strict protein‐restricted diet. At any time or age patients may still experience metabolic decompensations, requiring administration of branched chain ami
Externí odkaz:
https://doaj.org/article/68c4ba6b818346128a1c8af50b284448
Autor:
Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay, Aude Servais
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Chronic kidney disease (CKD) is one of the main long-term prognosis factors in methylmalonic acidemia (MMA), a rare disease of propionate catabolism. Our objective was to precisely address the clinical and biological characteristi
Externí odkaz:
https://doaj.org/article/ac37a157b8d245b5abfc3a9d15a19433
Autor:
Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)
Externí odkaz:
https://doaj.org/article/01f10fc3644d4890add9690ba176560b
Autor:
Giuseppina Arbore, Erin E. West, Jubayer Rahman, Gaelle Le Friec, Nathalie Niyonzima, Mehdi Pirooznia, Ilker Tunc, Polychronis Pavlidis, Nicholas Powell, Yuesheng Li, Poching Liu, Aude Servais, Lionel Couzi, Veronique Fremeaux-Bacchi, Leo Placais, Alastair Ferraro, Patrick R. Walsh, David Kavanagh, Behdad Afzali, Paul Lavender, Helen J. Lachmann, Claudia Kemper
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Complement, while serving to remove pathogens in the circulation, is also important for synergizing with inflammasomes to modulate CD4 T cell activation. Here the authors show that CD46, a complement receptor expressed only in humans, is essential fo
Externí odkaz:
https://doaj.org/article/12d27a6322604934916857f1fe60bd7c
Autor:
Claire-Marine Bérat, Célina Roda, Anais Brassier, Juliette Bouchereau, Camille Wicker, Aude Servais, Sandrine Dubois, Murielle Assoun, Claire Belloche, Valérie Barbier, Virginie Leboeuf, François M. Petit, Pauline Gaignard, Elise Lebigot, Pierre-Jean Bérat, Clément Pontoizeau, Guy Touati, Cécile Talbotec, Florence Campeotto, Chris Ottolenghi, Jean-Baptiste Arnoux, Pascale de Lonlay pascale
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100655- (2021)
Context: A strictly controlled diet (often involving enteral tube feeding (ETF)) is part of the treatment of many inherited metabolic diseases (IMDs). Objective: To describe the use of ETF in a large cohort of patients with IMDs. Design: A retrospect
Externí odkaz:
https://doaj.org/article/5305a830d5894d958f53a020b67a5820
Publikováno v:
Cells, Vol 11, Iss 4, p 682 (2022)
Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients. Patients who develop CNS complications today have a worse compl
Externí odkaz:
https://doaj.org/article/d16d1daa2e81478696f79bdd356ec56b