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Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry

✍ Scribed by Angéla Dajnoki; György Fekete; Joan Keutzer; Joseph J. Orsini; Victor R. De Jesus; Yin-Hsiu Chien; Wuh-Liang Hwu; Zoltan Lukacs; Adolf Mühl; X. Kate Zhang; Olaf Bodamer

Book ID
116348671
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
429 KB
Volume
411
Category
Article
ISSN
0009-8981

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## Abstract The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent