Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
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- 作者：Susan Elliotta ; Norman Burokera ; Jason J. Cournoyerb ; Anna M. Potierb ; Joseph D. Trometerb ; Carole Elbinb ; Mack J. Schermerb ; Jaana Kantolae ; Aaron Boycea ; Frantisek Turecekc ; Michael H. Gelbc ; d ; gelb@uw.edu" class="auth_mail" title="E-mail the corresponding author ; C. Ronald Scotta ; crscott@u.washington.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：DBS ; Dried blood spot on a newborn screening card ; GAA ; Acid α-glucosidase ; GALC ; Galactocerebrosidase ; GBA ; Glucocerebrosidase ; GLA ; α-Galactosidase A ; IDUA ; α-Iduronidase ; MPS-I ; Mucopolysaccharidosis-I ; MS/MS ; Tandem mass spectrometry ; MRM ; Multiple reaction monitoring ; NBS ; Newborn screening ; SMPD1 ; Sphingomyelin phosphodiesterase-1
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：118
- 期：4
- 页码：304-309
- 全文大小：636 K
文摘
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Activities of six lysosomal enzymes were assayed by mass spectrometry.
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15">The multiplex assay was carried out with a single assay cocktail.
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The number of screen positives per 100,000 newborns totaled 79 for 6 diseases.
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The rate of screen positives was lower than that obtained using fluorimetry.