Find-GEMS (Gaucher patients in epilepsy and myoclonus): screening for Gaucher disease with enzyme assay among patients with early-onset seizures

Nakamura Kimitoshi; Momosaki Ken; Yoshida Shin-ichiro; Matsumoto Shirou; Mitsubuchi Hiroshi; Fumio

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Find-GEMS (Gaucher patients in epilepsy and myoclonus): screening for Gaucher disease with enzyme assay among patients with early-onset seizures

机译：Find-GEMS（患有癫痫和肌阵挛的戈谢病患者）：通过酶分析法筛查早发性癫痫发作患者的戈谢病

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来源
《Molecular genetics and metabolism》 |2016年第2期|共1页
作者
Nakamura Kimitoshi; Momosaki Ken; Yoshida Shin-ichiro; Matsumoto Shirou; Mitsubuchi Hiroshi; Fumio;
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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. Find-GEMS (Gaucher patients in epilepsy and myoclonus): screening for Gaucher disease with enzyme assay among patients with early-onset seizures [J] . Nakamura Kimitoshi, Momosaki Ken, Yoshida Shin-ichiro, Molecular genetics and metabolism . 2016,第2期

机译：Find-GEMS（患有癫痫和肌阵挛的戈谢病患者）：通过酶分析法筛查早发性癫痫发作患者的戈谢病
2. Gaucher disease patient with myoclonus epilepsy and a novel mutation. [J] . Tajima A, Ohashi T, Hamano Pediatric neurology . 2010,第1期

机译：高雪氏病患者患有肌阵挛性癫痫和一种新型突变。
3. Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease. [J] . Sellos Moura M, Barzegar S, Pan L, Journal of Immunological Methods . 2011,第1a2期

机译：开发了一组高灵敏度，等效的检测方法，用于检测戈谢病患者对维拉苷酸酶α或伊米苷酶替代治疗的抗体反应。
4. FT-ICR MS Profiling of Small Molecule Derived from Plasma Obtained from Gaucher Disease Patients [C] . TuKiet T. Lam, Mei Yang, Ji Young Lee, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2009

机译：FT-ICR MS谱分析来自Gaucher病患者获得的血浆衍生的小分子
5. Patients' opinions on genetic counseling on the increased risk of Parkinson's disease among Gaucher disease carriers [D] . Mulhern, Maureen 2015

机译：患者对高彻病携带者中帕金森氏病风险增加的遗传咨询意见
6. The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland [O] . Markku J. Savolainen, Antti Karlsson, Samppa Rohkimainen, 2021

机译：Gaucher早期的诊断协商点评分系统（GED-C PSS）：评估芬兰Gaucher病患者的原型和筛选回顾性电子健康记录数据的可行性以识别芬兰潜在未认识的患者
7. Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L) [O] . Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, 2004

机译：由于稀有化合物杂合性，早期视觉癫痫发作和渐进式肌阵挛性癫痫症（N188S / S107L）

Find-GEMS (Gaucher patients in epilepsy and myoclonus): screening for Gaucher disease with enzyme assay among patients with early-onset seizures

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