Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Jean Louis Abitbol"'
Autor:
Young Bae Sohn, Raymond Wang, Jane Ashworth, Pierre Broqua, Mireille Tallandier, Jean-Louis Abitbol, Erin Jozwiak, Laura Pollard, Timothy C. Wood, Tariq Aslam, Paul R. Harmatz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101041- (2024)
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disorder characterized by deficient activity of arylsulfatase B enzyme (ASB) resulting in cellular accumulation of dermatan sulfate (DS) and chondroitin sulfate (CS) t
Externí odkaz:
https://doaj.org/article/efb44fff9b354619a473658aafb0ccd6
Autor:
Sven M., Francque, Pierre, Bedossa, Manal F., Abdelmalek, Quentin M., Anstee, Elisabetta, Bugianesi, Vlad, Ratziu, Philippe, Huot-Marchand, Bruno, Scherrer, Jean-Louis, Junien, Pierre, Broqua, Jean-Louis, Abitbol
Publikováno v:
In Contemporary Clinical Trials November 2020 98
Autor:
Nathalie Guffon, Pratima Chowdary, Elisa Leão Teles, Derralynn Hughes, Julia B. Hennermann, Philippe Huot‐Marchand, Elodie Faudot‐Vernier, Olivier Lacombe, Anne Fiquet, Marie‐Paule Richard, Jean‐Louis Abitbol, Mireille Tallandier, Christian J. Hendriksz
Publikováno v:
Journal of Inherited Metabolic Disease. 45:340-352
Mucopolysaccharidosis (MPS) disorders are a group of rare, progressive lysosomal storage diseases characterized by the accumulation of glycosaminoglycans (GAGs) and classified according to the deficient enzyme. Enzyme replacement therapy (ERT) of MPS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52fa76f7d92f85e65eee712b97b6256
https://doi.org/10.1002/jimd.12467
https://doi.org/10.1002/jimd.12467
Publikováno v:
Pharmaceuticals, Vol 3, Iss 2, Pp 345-368 (2010)
Olesoxime (TRO19622) is a novel mitochondrial-targeted neuroprotective compound undergoing a pivotal clinical efficacy study in Amyotrophic Lateral Sclerosis (ALS) and also in development for Spinal Muscular Atrophy (SMA). It belongs to a new family
Externí odkaz:
https://doaj.org/article/728cf9d24bc147f3bce7923066258f01
Autor:
Jerome Boursier, Hugo Herve, Clémence M Canivet, Marine Roux, Pierre Broqua, Michael Cooreman, Jean-Louis Junien, Jean Louis Abitbol, Philippe Huot-Marchand, Lucile Dzen, Sanjaykanumar Patel
Publikováno v:
Journal of Hepatology. 77:S715
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d82e78d72eff20b848ad4ac9375a2ac
https://doi.org/10.1016/s0168-8278(22)01747-0
https://doi.org/10.1016/s0168-8278(22)01747-0
Autor:
Nathalie Kapp, Bruno Scherrer, André Ulmann, Erin Gainer, Henri Camille Mathe, Hélène Guillard, Jean Louis Abitbol
Publikováno v:
Contraception. 91:97-104
To further evaluate the effect of weight and body mass index (BMI) on the efficacy of levonorgestrel emergency contraception.Data from two large, multicenter, randomized controlled trials designed to assess emergency contraceptive efficacy were poole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92436076dffb2d230df2106955369a5a
https://doi.org/10.1016/j.contraception.2014.11.001
https://doi.org/10.1016/j.contraception.2014.11.001
Autor:
Janbernd Kirschner, S. Fontaine-Carbonnel, Giuseppe Vita, Enrico Bertini, François Rivier, Nathalie Goemans, W. Ludo van der Pol, Mariacristina Scoto, Brigitte Chabrol, Carole Vuillerot, Helen Roper, Alessandra Govoni, Maggie C. Walter, Jeppe Buchbjerg, Anna Lusakowska, Ulrike Schara, Eugenio Mercuri, Jean Louis Abitbol, Thomas Blaettler, Nicolas Deconinck, Michela Guglieri, Eduardo Vianna, Claudio Bruno, Jean Marie Cuisset, Francesco Muntoni, Carol Reid, Eric Dessaud, Hanns Lochmüller, Giacomo P. Comi, Brigitte Estournet, Patricia Sanwald Ducray, Carole André, Francesca Magri, Bruno Scherrer, Leonard H. van den Berg, Paulo Fontoura, Ksenija Gorni, Wolfgang Müller-Felber, Michèle Mayer
Summary Background Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which limited treatment is available. We investigated the safety and efficacy of olesoxime in patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bad810ec4902101d89d04fe23c17c79
http://hdl.handle.net/11570/3114831
http://hdl.handle.net/11570/3114831
Autor:
Jean-Louis Junien, Xavier Gawronski, Laurence Feraille, Ingrid Jantzen, Eugeni Entchev, Jean-Louis Abitbol, Mireille Tallandier, Jean-Michel Luccarini, Pierre Broqua
Publikováno v:
Molecular Genetics and Metabolism. 123:S42-S43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::338e119d30cf7b89dc4b317c9bbaf570
https://doi.org/10.1016/j.ymgme.2017.12.093
https://doi.org/10.1016/j.ymgme.2017.12.093
Autor:
Rita Chadarevian, Robert F. Harrison, Jean-Louis Abitbol, John Newell-Price, Carole Gueroult, Miguel Debono
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4e66caae66e823e783c2c3494a5f6b4
https://doi.org/10.1530/endoabs.41.gp28
https://doi.org/10.1530/endoabs.41.gp28
Autor:
Eduardo Vianna, Eric Dessaud, Bruno Scherrer, Janbernd Kirschner, Jeppe Buchbjerg, W.L. van der Pol, Jean-Louis Abitbol, E. Bertini, Ksenija Gorni, Eugenio Mercuri, Jean-Marie Cuisset, Carole Vuillerot, Anna Lusakowska, Carol Reid, Paulo Fontoura, G. Comi, F. Muntoni
Publikováno v:
Neuromuscular Disorders. 27:S209-S210
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3aa284adb9518478c9e15a5979990238
https://doi.org/10.1016/j.nmd.2017.06.417
https://doi.org/10.1016/j.nmd.2017.06.417