A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response

摘要：

BACKGROUND:Gaucher disease(GD) is caused by mutations on GBA1 gene leading to deficiency in acid β-glucosidase(GCase) function and subsequent accumulation of its substrates,glucosylceramide(GlcC) and glucosylsphingosine(GlcS).GlcS in plasma has been proposed as a highly sensitive and specific biomarker for diagnosis of GD and for monitoring disease progression and response to therapy.The method was also capable of resolving the isomeric pair,glucosylsphingosine and galactosylsphingosine,the latter being a potential promising biomarker for diagnosis of Krabbe disease.

作者: Wujuan Zhang Melissa Oehrle Carlos E.Prada Ida Schwartz Somchai Chutipongtanate Duangrurdee Wattanasirichaigoon Venette Inskeep Mei Dai Dao Pan Ying Sun Kenneth DR Setchell

作者单位: Department of Pathology and Laboratory Medicine,Cincinnati Children”s Hospital Medical Center,3333 B Division of Human Genetics,Cincinnati Children”s Hospital Medical Center,3333 Burnet Avenue,Cincinna Bucaramanga,Colombia,Genetics Department,UFRGS,Rua Ramiro Barcellos,2350,90035-003-Porto Alegre-RS,B Department of Pediatrics,Faculty of Medicine Ramathibodi Hospital,Mahidol University,Thailand Division of Human Genetics,Cincinnati Children”s Hospital Medical Center,3333 Burnet Avenue,Cincinna Division of Experimental Hematology and Cancer Biology,Cincinnati Children”s Hospital Medical Center

会议类型: 国内会议

会议名称: 第21届全国色谱学术报告会

会议地点: 成都

会议语种:英文

页码: 239-239

在线出版日期: 2017-05-19（万方平台首次上网日期，不代表论文的发表时间）