https://scholars.lib.ntu.edu.tw/handle/123456789/525127
標題: | Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases | 作者: | WUH-LIANG HWU YIN-HSIU CHIEN NI-CHUNG LEE Wang S.-F. Chiang S.-C. Hsu L.-W. |
公開日期: | 2014 | 卷: | 336 | 起(迄)頁: | 177-196 | 來源出版物: | Topics in Current Chemistry | 摘要: | Many genetic diseases, especially the inborn errors of metabolism, have very low incidences, so developing a newborn screening test for each disease is not practical. This obstacle was overcome by employing the tandem mass spectrometry (MS/MS) technology. In the analysis, the samples can be injected directly into the flowing system without passing through a column, and both acylcarnitine and amino acid profiles can be obtained at the same time. MS/MS newborn screening has been shown to improve the outcome of patients affected by a number of inborn errors of metabolism. Recently, MS/MS analytical methods were developed for second-tier tests of newborn screening; new substrates have also been developed to measure the activity of lysosomal enzymes so lysosomal storage diseases can be diagnosed by MS/MS method now. ? Springer-Verlag Berlin Heidelberg 2012. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84890901494&doi=10.1007%2f128-2012-354&partnerID=40&md5=3d8a9ed4c952fa23a46dd2a0e11c195c https://scholars.lib.ntu.edu.tw/handle/123456789/525127 |
ISSN: | 0340-1022 | DOI: | 10.1007/128-2012-354 | SDG/關鍵字: | acylcarnitine; amino acid; carnitine; drug derivative; article; human; inborn error of metabolism; lysosome storage disease; methodology; newborn; newborn screening; tandem mass spectrometry; Amino Acids; Carnitine; Humans; Infant, Newborn; Lysosomal Storage Diseases; Metabolism, Inborn Errors; Neonatal Screening; Tandem Mass Spectrometry |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。