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Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

  • Published:2011-01 Issue: Volume:104 Page:S2-S9
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Blau Nenad,Hennermann Julia B.,Langenbeck Ulrich,Lichter-Konecki Uta

Publisher

Elsevier BV

Subject

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

Reference56 articles.

1. Laboratory diagnosis of phenylketonuria;Dhondt,2006

2. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants;Guthrie;Pediatrics,1963

3. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24hours;Chace;Clin. Chem.,1998

4. Neonatal birth parameters of positive newborns at PKU screening as predictors of false-positive and positive results at recall-testing;Zaffanello;J. Med. Screen,2003

5. Phenylketonuria (PKU): screening and management;NIH Consens. Statement,2000
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