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1
Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe.
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2
Phenylketonuria and other phenylalanine hydroxylation mutants in man.
Annu Rev Genet. 1980;14:179-202. doi: 10.1146/annurev.ge.14.120180.001143.
3
Diseases of phenylalanine metabolism.
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Neonatal hyperphenylalaninemia: a differential diagnosis.
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Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
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6
The place of large-scale screening in the prevention of hereditary diseases. Phenylketonuria.
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[Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].
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