Comprehensive study of Fabry disease: Gene mutation, GLA activity, GLA protein and globotriaosylsphingosine

Tsukimura Takahiro; Togawa Tadayasu; Sakuraba Hitoshi

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Comprehensive study of Fabry disease: Gene mutation, GLA activity, GLA protein and globotriaosylsphingosine

机译：法布里病综合研究：基因突变，GLA活性，GLA蛋白和球果糖基鞘氨醇

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《Molecular genetics and metabolism》 |2015年第2期|共1页
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Tsukimura Takahiro; Togawa Tadayasu; Sakuraba Hitoshi;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. Comprehensive study of Fabry disease: Gene mutation, GLA activity, GLA protein and globotriaosylsphingosine [J] . Tsukimura Takahiro, Togawa Tadayasu, Sakuraba Hitoshi Molecular genetics and metabolism . 2015,第2期

机译：法布里病综合研究：基因突变，GLA活性，GLA蛋白和球果糖基鞘氨醇
2. Fabry disease due to D313Y and novel GLA mutations,Correction: Fabry disease due to D313Y and novel GLA mutations [J] . Matthaios Speletas, Eleni Manou, Gedeon Loules, BMJ Open . 2017,第10期

机译：由于D313Y和新的GLA突变而导致的法布里病，更正：由于D313Y和新的GLA突变而导致的法布里病
3. Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919GA mutation [J] . ChienY.-H., BodamerO.A., ChiangS.-C., Journal of inherited metabolic disease . 2013,第5期

机译：Fabry病迟发性GLA IVS4 + 919G> A突变的新生儿和成年人中的溶血球菌糖基鞘氨醇（lyso-Gb3）水平
4. Mutations in G proteins and G protein-coupled receptors in human endocrine diseases [C] . Allen Spiege Colloque me?decine et recherche . 2006

机译：在人内分泌疾病中G蛋白和G蛋白偶联受体中的突变
5. Transmembrane Gla proteins. [D] . Kulman, John David. 2001

机译：跨膜Gla蛋白。
6. FUNCTIONAL STUDIES OF NEW GLA GENE MUTATIONS LEADING TO CONFORMATIONAL FABRY DISEASE [O] . C. Filoni, A. Caciotti, L. Carraresi, -1

机译：新型GLA基因突变导致构象法布里疾病的功能研究
7. Functional studies of new gla gene mutations leading to conformational fabry disease [O] . Filoni, C., Caciotti, A., Carraresi, L., 2010

机译：新的gla基因突变导致构象Fabry疾病的功能研究
8. Methods for Modulating PPAR Biological Activity for the Treatment of Diseases Caused By Mutations in the CFTR Gene. [R] . Freedman, S. D. 2005

机译：调节ppaR生物活性的方法用于治疗由CFTR基因突变引起的疾病。

Comprehensive study of Fabry disease: Gene mutation, GLA activity, GLA protein and globotriaosylsphingosine

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