Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

Author:

Blau Nenad,Bonafé Luisa,Blaskovics Milan E.

Publisher

Springer Berlin Heidelberg

Reference18 articles.

1. Blaskovics ME, Schaeffler GE, Hack S. Phenylalaninemia-differential diagnosis. Arch Dis Child 1974;49:835–843.

2. Güttier F. Hyperphenylalaninemia Diagnosis and classification of the various types of phenylalanie hydroxylase deficiency in childhood. Acta Pediat Scand 1980;280:1–80.

3. Blau N, Thöny B, Cotton RGH, Hyland K. 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. 8th ed. New York: McGraw-Hill, 2001:1275–1776.

4. Blau N, Barnes I, Dhondt JL. International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 1996;19:8–14.

5. Blau N, Thony B, Spada M, Ponzone A. Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turk J Pediatr 1996;38:19–35.

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