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Phenylketonuria

  1. George C-T Jiang1,
  2. George J Yohrling IV2,
  3. Kent E Vrana3

Published Online: 19 APR 2001

DOI: 10.1038/npg.els.0002006

eLS

eLS

How to Cite

Jiang, G. C.-T., IV, G. J. Y. and Vrana, K. E. 2001. Phenylketonuria. eLS. .

Author Information

  1. 1

    Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA

  2. 2

    Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA

  3. 3

    Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA

Publication History

  1. Published Online: 19 APR 2001

Further Reading

  1. Further Reading
  • Bremer HJ, Duran D, Kamerling JP, Przyrembel H and Wadman SK (eds) (1981) Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis, pp. 307327. Baltimore, MD: Urban & Schwarzenberg. [Chapter on clinical chemistry and diagnosis of inherited diseases.]
  • Eisensmith RC and Woo SLC (1995) Molecular genetics of phenylketonuria: from molecular anthropology to gene therapy. Advances in Genetics 32: 199271.
  • Hoang L, Byck S, Prevost L and Scriver CR (1996) PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Research 24(1): 127131.
  • Kaufman S (1997) Tetrahydrobiopterin, pp. 262322. Baltimore, MD: Johns Hopkins University Press. [Chapter on phenylketonuria and its variants.]
  • Nowacki PM, Byck S, Prevost L and Scriver CR (1997) The PAH Mutation Analysis Consortium Database update 1996. Nucleic Acids Research 25(1): 139142.
  • Wurtman R and Ritter-Walker E (1988) Dietary Phenylalanine and Brain Function. Boston, MA: Birthäuser.