In vivo disposal of phenylalanine in phenylketonuria: A study of two siblings
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799832
Reference34 articles.
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2. Bartholomé K, Lutz P, Bickel H (1975) Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.Pediatr Res 9: 899–903.
3. Chalmers RA, Watts RWE (1974) Quantitative studies on the urinary excretion of unconjugated aromatic acid in phenylketonuria.Clin Chim Acta 55: 281–294.
4. Clarke JT, Bier DM (1982) The conversion of phenylalanine to tyrosine in man. Direct measurement by continuous intravenous tracer infusion ofL-[ring-2H5]phenylalanine andL-[L-13C]tyrosine in the postabsorptive state.Metabolism 31: 999–1005.
5. Guttler F, Guldberg P (1994) Mutations in the phenylalanine hydroxylase gene: Genetic determinants for the phenotypic variability of hyperphenylalaninemia.Acta Paediatr Suppl 407: 49–56.
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