Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

Author:

Opladen Thomas,Abu Seda Bettina,Rassi Anahita,Thöny Beat,Hoffmann Georg F.,Blau Nenad

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Arai N, Narisawa K, Hayakawa H, Tada K (1982) Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots. Pediatrics 70:426–430

2. Blau N, Bonafé L, Blaskovics M (2005) Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Blau N, Duran M, Blaskovics M, Gibson KM (eds) Physician' Guide to the Laboratory Diagnosis of Metabolic Disease. Springer, Heidelberg, pp 89–106

3. Blau N, Thöny B (2008) Pterins and related enzymes. In: Blau N, Duran M, Gibson KM (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer-Verlag, Berlin Heidelberg, pp 665–702

4. Blau N, Thöny B, Cotton RGH, Hyland K (2001) Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 1725–1776

5. Blau N, Van Spronsen FJ, Levy HL (2010) Phenylketonuria. Lancet 376:1417–1427

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