Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience.
نویسندگان
چکیده
A 3-mm DBS punch was incubated in a single assay buffer with substrate and internal standard. The samples were processed by a liquid–liquid extraction by using ethyl acetate, dried and resuspended in solvent for injection into the tandem mass spectrometer. Products and internal standards were monitored by multiple reaction monitoring. Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience
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ورودعنوان ژورنال:
- Journal of neuromuscular diseases
دوره 2 s1 شماره
صفحات -
تاریخ انتشار 2015