Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Raphael Schiffmann"'
Autor:
Anadina Garcia, Anthony Perry, Yi Lun, Lukas Martin, Leo B. Dungan, Jin-Song Shen, Yi Shuan Wu, Virginia D. Schmith, Franklin K. Johnson, Raphael Schiffmann, Richie Khanna, Rick Hamler, Anibh M. Das, Pai-Chi Tsai
Publikováno v:
Clinical Pharmacology in Drug Development
Approved therapies for Fabry disease (FD) include migalastat, an oral pharmacological chaperone, and agalsidase beta and agalsidase alfa, 2 forms of enzyme replacement therapy. Broad tissue distribution may be beneficial for clinical efficacy in FD,
Autor:
Hiroki Maruyama, Johannes M. F. G. Aerts, Christiane Auray-Blais, Eva Krusinska, Daniel G. Bichet, Atul Mehta, Raphael Schiffmann, Nina Skuban
Publikováno v:
Genetics in Medicine
Genetics in medicine, 23(1), 192-201. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 192-201. SPRINGERNATURE
Genetics in medicine, 23(1), 192-201. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 192-201. SPRINGERNATURE
Purpose To assess the utility of globotriaosylsphingosine (lyso-Gb(3)) for clinical monitoring of treatment response in patients with Fabry disease receiving migalastat. Methods A post hoc analysis evaluated data from 97 treatment-naive and enzyme re
Autor:
Derralynn Hughes, Jay A. Barth, Nina Skuban, Daniel G. Bichet, Roberto Giugliani, Vipul Jain, Jeffrey P. Castelli, Ulla Feldt-Rasmussen, Ana Jovanovic, Christopher Viereck, Raphael Schiffmann, Gere Sunder-Plassmann, Kathleen Nicholls
Publikováno v:
American Journal of Medical Genetics. Part a
Hughes, D A, Nicholls, K, Sunder-Plassmann, G, Jovanovic, A, Feldt-Rasmussen, U, Schiffmann, R, Giugliani, R, Jain, V, Viereck, C, Castelli, J P, Skuban, N, Barth, J A & Bichet, D G 2019, ' Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease : Experience from the Phase 3 ATTRACT study ', American Journal of Medical Genetics. Part A, vol. 179, no. 6, pp. 1069-1073 . https://doi.org/10.1002/ajmg.a.61105
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Hughes, D A, Nicholls, K, Sunder-Plassmann, G, Jovanovic, A, Feldt-Rasmussen, U, Schiffmann, R, Giugliani, R, Jain, V, Viereck, C, Castelli, J P, Skuban, N, Barth, J A & Bichet, D G 2019, ' Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease : Experience from the Phase 3 ATTRACT study ', American Journal of Medical Genetics. Part A, vol. 179, no. 6, pp. 1069-1073 . https://doi.org/10.1002/ajmg.a.61105
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Autor:
Eva Krusinska, Daniel G. Bichet, Nina Skuban, Atul Mehta, Hiroki Maruyama, Christiane Auray-Blais, Raphael Schiffmann, Johannes M. F. G. Aerts
Publikováno v:
Genetics in Medicine, 23(1), 238
Genetics in Medicine
Genetics in Medicine
To assess the utility of globotriaosylsphingosine (lyso-GbA post hoc analysis evaluated data from 97 treatment-naive and enzyme replacement therapy (ERT)-experienced patients with migalastat-amenable GLA variants from FACETS (NCT00925301) and ATTRACT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a79937a9dbb7637ddf7065c9d924e1
https://www.sciencedirect.com/science/article/pii/S1098360021025302?via=ihub
https://www.sciencedirect.com/science/article/pii/S1098360021025302?via=ihub
Autor:
Alessandro P. Burlina, Mark Thomas, Alison Muir, Michael West, Aleš Linhart, Sandro Feriozzi, Joan Fletcher, Ana Jovanovic, James C. Moon, R. Giugliani, João Paulo Oliveira, Juan Politei, Raphael Schiffmann, Michael Mauer, Daniel G. Bichet, Olivier Lidove, Guillem Pintos-Morell, Christiane Auray-Blais, Alberto Ortiz, Patricio Aguiar, Duncan Cole, Mathias Beck, Perry M. Elliott, Camilla Tøndel, Derralynn Hughes, David Moreno-Martinez, Albina Nowak, Mirjam Langeveld, Andrew Talbot, Einar Svarstad, David G. Warnock, Christoph Kampmann, Paula Rozenfeld, Ulla Feldt-Rasmussen
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2021, 132 (4), pp.234-243. ⟨10.1016/j.ymgme.2021.02.001⟩
Moreno-Martinez, D, Aguiar, P, Auray-Blais, C, Beck, M, Bichet, D G, Burlina, A, Cole, D, Elliott, P, Feldt-Rasmussen, U, Feriozzi, S, Fletcher, J, Giugliani, R, Jovanovic, A, Kampmann, C, Langeveld, M, Lidove, O, Linhart, A, Mauer, M, Moon, J C, Muir, A, Nowak, A, Oliveira, J P, Ortiz, A, Pintos-Morell, G, Politei, J, Rozenfeld, P, Schiffmann, R, Svarstad, E, Talbot, A S, Thomas, M, Tøndel, C, Warnock, D, West, M L & Hughes, D A 2021, ' Standardising clinical outcomes measures for adult clinical trials in Fabry disease : A global Delphi consensus ', Molecular Genetics and Metabolism, vol. 132, no. 4, pp. 234-243 . https://doi.org/10.1016/j.ymgme.2021.02.001
Molecular genetics and metabolism, 132(4), 234-243. Academic Press Inc.
Molecular Genetics and Metabolism, Elsevier, 2021, 132 (4), pp.234-243. ⟨10.1016/j.ymgme.2021.02.001⟩
Moreno-Martinez, D, Aguiar, P, Auray-Blais, C, Beck, M, Bichet, D G, Burlina, A, Cole, D, Elliott, P, Feldt-Rasmussen, U, Feriozzi, S, Fletcher, J, Giugliani, R, Jovanovic, A, Kampmann, C, Langeveld, M, Lidove, O, Linhart, A, Mauer, M, Moon, J C, Muir, A, Nowak, A, Oliveira, J P, Ortiz, A, Pintos-Morell, G, Politei, J, Rozenfeld, P, Schiffmann, R, Svarstad, E, Talbot, A S, Thomas, M, Tøndel, C, Warnock, D, West, M L & Hughes, D A 2021, ' Standardising clinical outcomes measures for adult clinical trials in Fabry disease : A global Delphi consensus ', Molecular Genetics and Metabolism, vol. 132, no. 4, pp. 234-243 . https://doi.org/10.1016/j.ymgme.2021.02.001
Molecular genetics and metabolism, 132(4), 234-243. Academic Press Inc.
International audience; Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of
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
Autor:
Olivier Lidove, Sandro Feriozzi, John Asher Johnson, Lubanda Jc, Kathleen Nicholls, Mark Thomas, Roser Torra, Bojan Vujkovac, Ricardo Reisin, Raphael Schiffmann, Michael West, Albina Nowak, Paula Rozenfeld, James C. Moon, Patrick Deegan, Andrea Frustaci, Derralynn Hughes, Patricio Aguiar, Mark J. Rolfe, Einar Svarstad, David G. Warnock, Aleš Linhart, Uma Ramaswami, Dau-Ming Niu, Fatih Süheyl Ezgü
Publikováno v:
e035182
BMJ Open
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
BMJ Open, Vol 10, Iss 10 (2020)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
BMJ Open
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
BMJ Open, Vol 10, Iss 10 (2020)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331d397aa4e03343500b80672fe0c4ba
https://ddd.uab.cat/record/252975
https://ddd.uab.cat/record/252975
Publikováno v:
Expert Opinion on Orphan Drugs. 6:301-309
Introduction: Fabry disease, a rare X-linked disorder of α-galactosidase A deficiency, leads to progressive multiorgan damage.Areas covered: Enzyme replacement therapy (ERT) is the current standard...
Autor:
Robin J. Ziegler, Siamak Jabbarzadeh-Tabrizi, Teodoro Bottiglieri, Seng H. Cheng, Jin-Song Shen, Mary Wight-Carter, Taniqua S. Day, Shuyuan Chen, Jay W. Schneider, Raphael Schiffmann, Xing Li Meng, Erland Arning
Publikováno v:
Journal of Inherited Metabolic Disease. 41:231-238
Fabry disease is a glycosphingolipidosis caused by deficient activity of α-galactosidase A; it is one of a few diseases that are associated with priapism, an abnormal prolonged erection of the penis. The goal of this study was to investigate the pat
Autor:
Jay A. Barth, Benjamin Bronfin, David J. Lockhart, William R. Wilcox, Robert J. Desnick, Daniel G. Bichet, Dominique P. Germain, Xiaoyang Wu, John Kirk, Raphael Schiffmann, Hadis Williams, Roberto Giugliani, Julie Yu, Sarah Bond, Elfrida R. Benjamin, Kenneth J. Valenzano, Farhana Pruthi, Carrolee Barlow, Derralynn Hughes, Maria Cecilia Della Valle, Evan Katz, Jeff Castelli
Publikováno v:
Genetics in Medicine
Purpose: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity. Methods: