PHENYLKETONURIA
REFERENCES
Genetics References
- Woo, S.L. (1989)
"Molecular Basis and Population Genetics of Phenylketonuria", Biochemistry
28, 1
- Levy, H.L (1989)
"Invited Editorial; Molecular Genetics of Phenylketonuria and Its Implications",
Am. J. Hum. Genet. 45, 667
- Matalon, R.,
et al. (1989) "Hyperphenylalaninemia Due to Inherited Deficiencies of Tetrahydrobiopterin",
Adv. Pediatr. 36, 67
General references on
amino acid metabolism
- Felig, P. (1975)
"Amino Acid Metabolism in Man", Annu. Rev. Biochem. 44, 933
- Meister, A. (1965),
Biochemistry of the amino acids, 2nd Ed., Academic Press, New York,
NY
- Scriver et al.
(1995), The metabolic basis of inherited disease, 6th Ed., McGraw-Hill,
New York, NY
Research and review
articles
- Halestrap, A.P,
Brand, M.D., & Denton, R.M. (1974), "Inhibition of mitochondrial pyruvate
transport by phenylpyruvate and (alpha)-ketoisocaproate", Biochim. Biophys.
Acta 367, 102
- Matalon, R., &
Michals, K. (1991), "Phenylketonuria: Screening, Treatment and Maternal
PKU", Clin. Biochem. 24, 337
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