Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry
Author:
Affiliation:
1. Institut für Klinische Chemie; Molekulare Diagnostik und Mitochondriale Genetik; Krankenhaus München-Schwabing
2. ; Kinderklinik der Technischen Universität München; München Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1010560704092/fullpdf
Reference19 articles.
1. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene;Barbosa;J Biol Chem,1991
2. Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis;Brusilow;J Clin Invest,1984
3. Development of a method for rapid quantitation of amino acids by liquid chromatography-tandem mass spectrometry (LC-MSMS) in plasma;Casetta;Clin Chem Lab Med,2000
4. Alternative pathway therapy for urea cycle disorders;Feillet;J Inherit Metab Dis,1998
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