Author:
Opladen Thomas,Hoffmann Georg F.,Blau Nenad
Subject
Genetics(clinical),Genetics
Reference31 articles.
1. al Aqeel A, Ozand PT, Gascon G et al (1991) Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neurology 41:730–737
2. Blau N, Burgard P (2006) Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism. In: Blau N, Hoffmann GF, Leonard J, Clarke JTR (eds) Physician’s Guide to the Treatment and Follow-up of Metabolic Diseases. Springer, Berlin, pp 25–34
3. Blau N, Barnes I, Dhondt JL (1996) International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 19:8–14
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, Duran M, Blaskovics M, Gibson KM (2003) Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Blau N, Bonafe L, Blaskovics M (eds) Physician's Guide to Laboratory Diagnosis of Metabolic Diseases. Springer, Berlin, pp 89–106
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