Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Nina Skuban"'
Autor:
Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100807- (2021)
Externí odkaz:
https://doaj.org/article/f9b02964e6f646bc9cee6c10c8e6d13b
Autor:
Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100786- (2021)
The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)–naive and ERT-experienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extensi
Externí odkaz:
https://doaj.org/article/3840e284e7ef415e9f42f64e9adb467f
Autor:
Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations. M
Externí odkaz:
https://doaj.org/article/5e779a69a2964f6c8462aa2e8b74ad76
Autor:
Natalja Haninger-Vacariu, Sarah El-Hadi, Udo Pauler, Marina Foretnik, Renate Kain, Zoltán Prohászka, Alice Schmidt, Nina Skuban, Jay A. Barth, Gere Sunder-Plassmann
Publikováno v:
Case Reports in Obstetrics and Gynecology, Vol 2019 (2019)
Our patient was a 37-year-old woman with Fabry disease (GLA p.R112H) with a medical history of recurrent headache, nausea, vomiting, vertigo, and tobacco use (20 cigarettes/day). Fabry disease was diagnosed in 2005 when she experienced proteinuria, p
Externí odkaz:
https://doaj.org/article/471174f65a62470893b8055a81f35e6f
Autor:
Alina C Beaton, Daneshvari Solanki, Hernan Salazar, Steve Folkerth, Neil Singla, Harold S Minkowitz, David Leiman, Ben Vaughn, Nina Skuban, Gwendolyn Niebler
Publikováno v:
Regional Anesthesia & Pain Medicine. :rapm-2022
IntroductionSurgical site infiltration with bupivacaine hydrochloride (HCl) is a standard element of postoperative analgesia for soft tissue surgeries, but results in short-lived analgesia. A novel bupivacaine implant, XARACOLL (bupivacaine HCl), is
Autor:
Andrew E. Mulberg, Alan L. Shields, Vivian Kessler, Nina Skuban, Jay A. Barth, Fiona Taylor, Roger E. Lamoureux
Publikováno v:
Quality of Life Research
Purpose Fabry disease is a rare multisystemic disorder caused by functional deficiency of the lysosomal enzyme alpha-galactosidase A. Gastrointestinal (GI) signs and symptoms are among the earliest clinical manifestations in patients with Fabry disea
Autor:
Derralynn A Hughes, Daniel G Bichet, Roberto Giugliani, Robert J Hopkin, Eva Krusinska, Kathleen Nicholls, Iacopo Olivotto, Ulla Feldt-Rasmussen, Norio Sakai, Nina Skuban, Gere Sunder-Plassmann, Roser Torra, William R Wilcox
Publikováno v:
Journal of medical genetics.
BackgroundFabry disease is a rare, multisystemic disorder caused byGLAgene variants that lead to alpha galactosidase A deficiency, resulting in accumulation of glycosphingolipids and cellular dysfunction. Fabry-associated clinical events (FACEs) caus
Autor:
Kathleen Nicholls, Toya Ohashi, Derralynn Hughes, Jay A. Barth, Nina Skuban, Takashi Hamazaki, Gere Sunder-Plassmann, Julie Yu, Suma P. Shankar, Iacopo Olivotto, Khan Nedd, Ulla Feldt-Rasmussen, Damara Ortiz
Publikováno v:
Feldt-Rasmussen, U, Hughes, D, Sunder-Plassmann, G, Shankar, S, Nedd, K, Olivotto, I, Ortiz, D, Ohashi, T, Hamazaki, T, Skuban, N, Yu, J, Barth, J A & Nicholls, K 2020, ' Long-term efficacy and safety of migalastat treatment in Fabry disease : 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study ', Molecular Genetics and Metabolism, vol. 131, no. 1-2, pp. 219-228 . https://doi.org/10.1016/j.ymgme.2020.07.007
Results from the 18-month randomized treatment period of the phase 3 ATTRACT study demonstrated the efficacy and safety of oral migalastat compared with enzyme replacement therapy (ERT) in patients with Fabry disease who previously received ERT. Here
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
Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study
Autor:
Toya Ohashi, Norio Sakai, Jay A. Barth, Takashi Hamazaki, Nina Skuban, Hjalmar Lagast, Ichiei Narita, Jeffrey P. Castelli
Publikováno v:
Clinical and Experimental Nephrology
Background Fabry disease is a progressive X-linked lysosomal disorder. In this subgroup analysis of the global phase III ATTRACT study, the efficacy and safety of oral migalastat, a pharmacologic chaperone, were investigated in Japanese patients with