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Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots.

Abstract：

OBJECTIVES:To develop a method for the determination of succinylacetone (SA) in dried blood spots (DBS) using tandem mass spectrometry (MS/MS). METHODS:SA was extracted from DBS with an acetonitrile and water solution (80:20 by volume) containing formic acid and hydrazine hydrate (both at 0.1% by volume), and analyzed by MS/MS with a total run time per sample under 2 min. The reference range for SA in newborns was determined by analyzing a control group of 3199 DBS. SA was also measured in stored newborn specimens from three patients diagnosed clinically with hepatorenal tyrosinemia (HT). RESULTS:The within-run precision was

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Allard P,Grenier A,Korson MS,Zytkovicz TH

doi

10.1016/j.clinbiochem.2004.07.006

subject

Has Abstract

pub_date

2004-11-01 00:00:00

pages

1010-5

issue

11

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(04)00202-4

journal_volume

37

pub_type

杂志文章

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