Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Frédéric Barbey"'
Autor:
Constantin Gatterer, Dietrich Beitzke, Senta Graf, Max Lenz, Gere Sunder-Plassmann, Christopher Mann, Markus Ponleitner, Robert Manka, Daniel Fritschi, Pierre-Alexandre Krayenbuehl, Philipp Kamm, Olivier Dormond, Frédéric Barbey, Pierre Monney, Albina Nowak
Publikováno v:
Life, Vol 13, Iss 5, p 1213 (2023)
Background: Fabry cardiomyopathy is characterized by left ventricular hypertrophy, myocardial fibrosis, arrhythmia, and premature death. Treatment with migalastat, an oral pharmacological chaperone, was associated with a stabilization of cardiac biom
Externí odkaz:
https://doaj.org/article/c2340785ca174ce9a82df8f7fc53bac2
Autor:
Pierre Monney, Salah D. Qanadli, Steven D. Hajdu, Christel Tran, Juerg Schwitter, Olivier Dormond, Frédéric Barbey
Publikováno v:
Swiss Medical Weekly, Vol 147, Iss 4142 (2017)
BACKGROUND Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors. AIMS OF THE STUDY To characterise the remodelling of th
Externí odkaz:
https://doaj.org/article/d75cf88c0d4a4fd9b1c2e3c45f85f902
Autor:
Abdellah Tebani, Frédéric Barbey, Olivier Dormond, Franklin Ducatez, Stéphane Marret, Albina Nowak, Soumeya Bekri
Publikováno v:
Translational Research.
Autor:
Margherita Ruoppolo, Johannes A. Mayr, Marianna Caterino, Frédéric Barbey, Diana Ballhausen, Olivier Braissant, Gilles Allenbach, John O. Prior, Andrea Orlando Fontana, Mary Gonzalez Melo, David Viertl, Samuel Rotman, René G. Feichtinger, Michele Costanzo
Publikováno v:
Molecular Genetics and Metabolism. 134:287-300
Glutaric aciduria type I (GA-I, OMIM # 231670 ) is an autosomal recessive inborn error of metabolism caused by deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). The principal clinical manifestation in GA-I patients is striatal
Publikováno v:
Néphrologie & Thérapeutique. 17:S11-S22
Fabry disease is due to mutations in the GLA gene that cause a deficiency of the activity of the lysosomal enzyme alpha-galactosidase A (α-gal A) resulting in intra-tissue accumulation of globotriaosylceramide. Recently, a novel therapeutic approach
Autor:
Frédéric Barbey, Olivier Dormond, Véronique Monzambani, Guillaume Barbey, Mehdi Namdar, Pierre Monney
Publikováno v:
Revue Médicale Suisse. 16:1886-1890
Autor:
Frédéric Barbey, Soumeya Bekri, Lenaig Abily-Donval, Pilon C, Céline Lesueur, Stéphanie Torre, Chevrier M, Tony Pereira, Abdellah Tebani, Stéphane Marret
SummaryFabry disease is a lysosomal disease due to α-galactosidase A (a-GalA) deficiency. Since 2001, Enzyme replacement therapy (ERT) has been used as specific treatment of Fabry disease, with variable effects depending on patient gender and affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b130d9bdab4a7469ea021c3614d304d
https://doi.org/10.1101/2021.04.26.441451
https://doi.org/10.1101/2021.04.26.441451
Autor:
Frédéric, Barbey, Olivier, Dormond, Véronique, Monzambani, Guillaume, Barbey, Mehdi, Namdar, Pierre, Monney
Publikováno v:
Revue medicale suisse. 16(709)
Fabry disease, an X-linked disease, results from a deficiency of the lysosomal enzyme alpha-galactosidase A, which causes glycosphingolipids accumulation in the body. On the basis of the residual enzymatic activity level, a classical, severe multisys
Autor:
Felix Beuschlein, Albina Nowak, Frédéric Barbey, Raphael Schiffmann, Uyen Huynh-Do, Pierre-Alexandre Krayenbuehl
Publikováno v:
Nowak, Albina; Huynh-Do, Uyen; Krayenbuehl, Pierre-Alexandre; Beuschlein, Felix; Schiffmann, Raphael; Barbey, Frédéric (2019). Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort. Journal of inherited metabolic diseases, 43(2), pp. 326-333. Wiley 10.1002/jimd.12167
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. The progressive accumulation of globotriaosylceramide results in life-threatening complications, including renal, cardiac, and cerebr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cf6a49ab896d76a69d9cb42e7834544
https://doi.org/10.5167/uzh-173838
https://doi.org/10.5167/uzh-173838
Publikováno v:
Nephrologietherapeutique.
Fabry disease is due to mutations in the GLA gene that cause a deficiency of the activity of the lysosomal enzyme alpha-galactosidase A (α-gal A) resulting in intra-tissue accumulation of globotriaosylceramide. Recently, a novel therapeutic approach