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Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

  • Published:2006-05 Issue:1 Volume:88 Page:16-21
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Magera Mark J.,Gunawardena Nishantha D.,Hahn Si Houn,Tortorelli Silvia,Mitchell Grant A.,Goodman Stephen I.,Rinaldo Piero,Matern Dietrich

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference11 articles.

1. Hypertyrosinemia;Mitchell,2001

2. Nontransplant treatment of tyrosinemia;Holme;Clin. Liver Dis.,2000

3. Nitisinone (NTBC) treatment of hepatorenal tyrosinemia in Quebec;Alvarez;J. Inherit. Metab. Dis.,2005

4. Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I;Schulze;Clin. Chem.,2001

5. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots;Allard;Clin. Biochem.,2004

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