Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

出版年份 2016 全文链接

标题

作者

关键词

Newborn screening, Lysosomal storage disorders, Gaucher disease, Krabbe disease, Hurler disease, Pompe disease, Fabry disease, Niemann-Pick-A/B disease, Tandem mass spectrometry, Dried blood spot

出版物

MOLECULAR GENETICS AND METABOLISM

Volume 118, Issue 4, Pages 304-309

出版商

Elsevier BV

发表日期

2016-05-23

DOI

10.1016/j.ymgme.2016.05.015

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