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Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography–electrospray ionization tandem mass spectrometry

  • Published:2012-04 Issue:4 Volume:105 Page:559-565
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Heintz Caroline,Troxler Heinz,Martinez Aurora,Thöny Beat,Blau Nenad

Publisher

Elsevier BV

Subject

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

Reference41 articles.

1. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency;Scriver,2001

2. Phenylketonuria;Blau;Lancet,2010

3. The phenylalanine hydroxylating system;Kaufman;Adv. Enzymol. Relat. Areas Mol. Biol.,1993

4. Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria;Bjorgo;Eur. J. Biochem.,1998

5. Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases;Pey;Am. J. Hum. Genet.,2007
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