A PHARMACOGENETIC APPROACH TO THE SELECTION OF FABRY PATIENTS FOR PHARMACOLOGICAL CHAPERONE THERAPY

被引:0
|
作者
Benjamin, E. R. [1 ]
Wu, X. [1 ]
Katz, E. [1 ]
Mascioli, K. [1 ]
Della Valle, M. C. [1 ]
Chang, H. [1 ]
Greene, D. [1 ]
Schiffmann, R. [2 ]
Lockhart, D. J. [1 ]
Valenzano, K. J. [1 ]
机构
[1] Amicus Therapeut, Cranbury, NJ USA
[2] Baylor Res Inst, Dallas, TX USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:S152 / S152
页数:1
相关论文
共 50 条
  • [1] A pharmacogenetic approach to pharmacological chaperone therapy for Fabry disease
    Benjamin, Elfrida
    Wu, Xiaoyang
    Katz, Evan
    Mascioli, Kirsten
    Chang, Kate
    Lockhart, David
    Valenzano, Kenneth
    MOLECULAR GENETICS AND METABOLISM, 2010, 99 (02) : S10 - S10
  • [2] A pharmacogenetic approach to predict response to pharmacological chaperone therapy for Fabry disease
    Benjamin, E. R.
    Wu, X.
    Khanna, R.
    Sitaraman, S. A.
    Palling, D. J.
    Schiffmann, R.
    Lockhart, D. J.
    Valenzano, K. J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 128 - 128
  • [3] A Pharmacogenetic Approach to Identify Mutant Forms of α-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease
    Wu, Xiaoyang
    Katz, Evan
    Della Valle, Maria Cecilia
    Mascioli, Kirsten
    Flanagan, John J.
    Castelli, Jeffrey P.
    Schiffmann, Raphael
    Boudes, Pol
    Lockhart, David J.
    Valenzano, Kenneth J.
    Benjamin, Elfrida R.
    HUMAN MUTATION, 2011, 32 (08) : 965 - 977
  • [4] A PHARMACOGENETIC APPROACH TO IDENTIFY MUTANT FORMS OF α-GALACTOSIDASE A THAT RESPOND TO A PHARMACOLOGICAL CHAPERONE FOR FABRY DISEASE
    Wu, X.
    Della Valle, M.
    Katz, E.
    Mascioli, K.
    Schiffmann, R.
    Castelli, J. P.
    Boudes, P.
    Lockhart, D. J.
    Valenzano, K. J.
    Benjamin, E. R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S190 - S190
  • [5] Pharmacological chaperone therapy for Fabry disease
    Ishii, Satoshi
    PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES, 2012, 88 (01): : 18 - 30
  • [6] A pharmacogenetic analysis of Fabry patient responses to pharmacological chaperone treatment with AT1001 (migalastat hydrochloride)
    Benjamin, Elfrida
    Wu, Xiaoyang
    Della Valle, M. Cecilia
    Katz, Evan
    Schiffmann, Raphael
    Castelli, Jeffrey P.
    Greene, Douglas S.
    Adera, Mathews
    Boudes, Pol
    Lockhart, David J.
    Valenzano, Kenneth J.
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (02) : S7 - S7
  • [7] Adherence to a pharmacological chaperone therapy among patients with Fabry disease: One centre experience
    Gorton, Janet
    Forshaw-Hulme, Stuart
    Jones, Mairead
    Jovanovic, Ana
    Stepien, Karolina
    MOLECULAR GENETICS AND METABOLISM, 2019, 126 (02) : S63 - S63
  • [8] Chaperone Therapy in Fabry Disease
    Weidemann, Frank
    Jovanovic, Ana
    Herrmann, Ken
    Vardarli, Irfan
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (03)
  • [9] Interest of the pharmacological chaperone migalastat in the treatment of Fabry disease
    Noel, Esther
    Mourot-Cottet, Rachel
    Andres, Emmanuel
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S106 - S106
  • [10] Pharmacological chaperone therapy using migalastat: 1 year experience of starting a new therapy as reported by Fabry patients at a single UK centre
    Grillo, Giuseppina
    MOLECULAR GENETICS AND METABOLISM, 2019, 126 (02) : S64 - S64