Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1973 Nov;25(6):646–654.

Classic phenylketonuria: heterozygote detection during pregnancy.

R F Griffin, M E Humienny, E C Hall, L J Elsas
PMCID: PMC1762571  PMID: 4773479

Full text

PDF
647

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ANDERSON J. A., GRAVEM H., ERTEL R., FISCH R. Identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses. J Pediatr. 1962 Oct;61:603–609. doi: 10.1016/s0022-3476(62)80154-1. [DOI] [PubMed] [Google Scholar]
  2. BERRY H., SUTHERLAND B., GUEST G. M. Phenylalanine tolerance tests on relatives of phenylketonuric children. Am J Hum Genet. 1957 Dec;9(4):310–316. [PMC free article] [PubMed] [Google Scholar]
  3. Cockburn F., Robins S. P., Forfar J. O. Free amino-acid concentrations in fetal fluids. Br Med J. 1970 Sep 26;3(5725):747–750. doi: 10.1136/bmj.3.5725.747. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Cunningham G. C., Day R. W., Berman J. L., Hsia D. Y. Phenylalanine tolerance tests. In families with phenylketonuria and hyperphenylalaninemia. Am J Dis Child. 1969 Jun;117(6):626–635. [PubMed] [Google Scholar]
  5. DRISCOLL K. W., HSIA D. Y., KNOX W. E., TROLL W. Detection by phenylalanine tolerance tests of heterozygous carriers of phenylketonuria. Nature. 1956 Dec 1;178(4544):1239–1240. doi: 10.1038/1781239a0. [DOI] [PubMed] [Google Scholar]
  6. GUTHRIE R., SUSI A. A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS. Pediatrics. 1963 Sep;32:338–343. [PubMed] [Google Scholar]
  7. Hardy G. H. MENDELIAN PROPORTIONS IN A MIXED POPULATION. Science. 1908 Jul 10;28(706):49–50. doi: 10.1126/science.28.706.49. [DOI] [PubMed] [Google Scholar]
  8. Jackson S. H., Hanley W. B., Gero T., Gosse G. D. Detection of phenylketonuric heterozygotes. Clin Chem. 1971 Jun;17(6):538–543. [PubMed] [Google Scholar]
  9. KNOX W. E., MESSINGER E. C. The detection in the heterozygote of the metabolic effect of the recessive gene for phenylketonuria. Am J Hum Genet. 1958 Mar;10(1):53–60. [PMC free article] [PubMed] [Google Scholar]
  10. Perry T. L., Hansen S., Tischler B., Bunting R. Determination of heterozygosity for phenylketonuria on the amino acid analyzer. Clin Chim Acta. 1967 Oct;18(1):51–56. doi: 10.1016/0009-8981(67)90244-6. [DOI] [PubMed] [Google Scholar]
  11. Rampini S., Anders P. W., Curtius H. C., Marthaler T. Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis. Pediatr Res. 1969 Jul;3(4):287–297. doi: 10.1203/00006450-196907000-00004. [DOI] [PubMed] [Google Scholar]
  12. Rosenberg L. E., Durant J. L., Elsas L. J. Familial iminoglycinuria. An inborn error of renal tubular transport. N Engl J Med. 1968 Jun 27;278(26):1407–1413. doi: 10.1056/NEJM196806272782601. [DOI] [PubMed] [Google Scholar]
  13. Rosenblatt D., Scriver C. R. Heterogeneity in genetic control of phenylalanine metabolism in man. Nature. 1968 May 18;218(5142):677–678. doi: 10.1038/218677a0. [DOI] [PubMed] [Google Scholar]
  14. Yakymyshyn L. Y., Reid D. W., Campbell D. J. Problems in the biochemical detection of heterozygotes for phenylketonuria. Clin Biochem. 1972 Mar;5(1):73–81. doi: 10.1016/s0009-9120(72)80010-9. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES