Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference21 articles.
1. Hypertyrosinemia;Mitchell,2001
2. Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I;Al-Dhalimy;Mol. Genet. Metab.,2002
3. Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione);Holme;J. Inherit. Metab. Dis.,1998
4. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry;Jones;Clin. Chim. Acta,2002
5. Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I;Laberge;Am. J. Hum. Genet.,1990
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