{"title":"肝检查增加和肝肿大:戈谢病在这一人群中的患病率是否增加?","authors":"Elkilic O, Laeremans H, Lasser L, Mboti F","doi":"10.15761/ghe.1000173","DOIUrl":null,"url":null,"abstract":"The screening was performed using a dried bloodspot on Whatman paper 906. The enzymes were measured with a LC-MS-MS method according to the protocol of CDC (Centre of disease control and prevention). The method was validated for stability of the enzymes in the dried blood spot and variability. All runs were controlled with external controls from CDC and blanc correction was adapted. Cut-off values were 3 umol/l/h has been proposed and used by the reference center.","PeriodicalId":93828,"journal":{"name":"World journal of gastroenterology, hepatology and endoscopy","volume":"109 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Increased liver tests and hepatomegaly: Is there an increased prevalence of Gaucher disease in this population?\",\"authors\":\"Elkilic O, Laeremans H, Lasser L, Mboti F\",\"doi\":\"10.15761/ghe.1000173\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The screening was performed using a dried bloodspot on Whatman paper 906. The enzymes were measured with a LC-MS-MS method according to the protocol of CDC (Centre of disease control and prevention). The method was validated for stability of the enzymes in the dried blood spot and variability. All runs were controlled with external controls from CDC and blanc correction was adapted. Cut-off values were 3 umol/l/h has been proposed and used by the reference center.\",\"PeriodicalId\":93828,\"journal\":{\"name\":\"World journal of gastroenterology, hepatology and endoscopy\",\"volume\":\"109 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"World journal of gastroenterology, hepatology and endoscopy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15761/ghe.1000173\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"World journal of gastroenterology, hepatology and endoscopy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15761/ghe.1000173","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Increased liver tests and hepatomegaly: Is there an increased prevalence of Gaucher disease in this population?
The screening was performed using a dried bloodspot on Whatman paper 906. The enzymes were measured with a LC-MS-MS method according to the protocol of CDC (Centre of disease control and prevention). The method was validated for stability of the enzymes in the dried blood spot and variability. All runs were controlled with external controls from CDC and blanc correction was adapted. Cut-off values were 3 umol/l/h has been proposed and used by the reference center.