The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

Benjamin Elfrida R.; Della Valle Maria Cecilia; Wu Xiaoyang; Katz Evan; Pruthi Farhana; Bond Sarah; Bronfin Benjamin; Williams Hadis; Yu Julie; Bichet Daniel G.; Germain Dominique P.; Giugliani Roberto; Hughes Derralynn; Schiffmann Raphael; Wilcox William R.; Desnick Robert J.; Kirk John; Barth Jay; Barlow Carrolee; Valenzano Kenneth J.; Castelli Jeff; Lockhart David J.

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The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

机译：药物ogersetics验证MIGALASTAT鉴定鉴定法布里患者

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Purpose: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the a-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of a-galactosidase A to restore lysosomal activity.

机译：目的：法布里疾病是由A-半乳糖苷酶A基因的突变引起的X键合溶酶体储存障碍。 Migalastat，一种药理伴侣，与特定的突变形式的α-半乳糖苷酶A结合，以恢复溶酶体活性。

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来源
《Genetics in medicine》 |2017年第4期|共9页
作者
Benjamin Elfrida R.; Della Valle Maria Cecilia; Wu Xiaoyang; Katz Evan; Pruthi Farhana; Bond Sarah; Bronfin Benjamin; Williams Hadis; Yu Julie; Bichet Daniel G.; Germain Dominique P.; Giugliani Roberto; Hughes Derralynn; Schiffmann Raphael; Wilcox William R.; Desnick Robert J.; Kirk John; Barth Jay; Barlow Carrolee; Valenzano Kenneth J.; Castelli Jeff; Lockhart David J.;
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作者单位

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Cambridge Biomed Boston MA USA;

Cambridge Biomed Boston MA USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Univ Montreal Hop Sacre Coeur Montreal PQ Canada;

Univ Paris Saclay Univ Versailles Div Med Genet Montigny France;

HCPA UFRGS Med Genet Serv Porto Alegre RS Brazil;

UCL Royal Free Campus London England;

Baylor Res Inst Dallas TX USA;

Emory Univ Dept Human Genet Atlanta GA 30322 USA;

Icahn Sch Med Mt Sinai New York NY 10029 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

Amicns Therapeut Cranbury NJ 08512 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
enzyme replacement therapy; Fabry disease; lysosomal storage disorder; personalized medicine; pharmacological chaperone;

机译：酶替代疗法;法布里病;溶酶体储存障碍;个性化医学;药理伴侣;
入库时间 2022-08-20 03:12:27

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专利

1. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat [J] . Benjamin Elfrida R., Della Valle Maria Cecilia, Wu Xiaoyang, Genetics in medicine . 2017,第4期

机译：药物ogersetics验证MIGALASTAT鉴定鉴定法布里患者
2. The effects of long-term migalastat treatment in Fabry disease patients previously treated with enzyme replacement therapy who have migalastat-amenable variants with low alpha-galactosidase A response in the in vitro migalastat amenability assay [J] . Nicholls Kathleen, Olivotto Lacopo, Ohashi Toya, Molecular genetics and metabolism . 2019,第2期

机译：在酶替代疗法中预先治疗的法布里病患者中长期疾病治疗的影响，所述酶替代疗法，具有低α-半乳糖苷酶的α-半乳糖苷酶在体外MIGalastat扫描扫描性测定中的反应
3. Design of a prospective, multicenter, multinational, observational safety and outcomes registry in Fabry disease patients treated with migalastat and untreated patients [J] . Sunder-Plassmann Gere, Bichet Daniel G., Davidonis Martynas, Molecular genetics and metabolism . 2019,第2期

机译：含有Migalastat和未经治疗患者的法布里病患者的预期，多中心，跨国，观测安全性和结果注册表
4. A CASE SERIES OF 178 CANINE PAIN PATIENTS TREATED BY GOLD IMPLANTS AND EVALUATED UP TO 6 MONTHS POST TREATMENT USING THE VALIDATED HELSINKI CHRONIC PAININDEXTreatment and Results [C] . Erhard Schulze Annual Conference on International^Veterinary^Acupuncture^Society . 2014

机译：用验证的赫尔辛基慢性止痛药治疗和结果评估了178名犬类疼痛患者的178名犬疼痛患者。
5. Patient Willingness to Undergo Robotic Surgery: Identification and Validation of a Predictive Model [D] . Anania, Emily C. 2019

机译：患者愿意接受机器人外科：预测模型的识别和验证
6. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat [O] . Elfrida R. Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, -1

机译：药物遗传学验证以确定需要使用米加司他治疗的Fabry患者
7. Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease [O] . Daniel G. Bichet, Johannes M. Aerts, Christiane Auray-Blais, 2020

机译：校正：评估血浆Lyso-GB3用于临床监测Migalastat治疗患者的临床监测治疗患者的法布里病

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

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