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- Blaskovics M. E. Diagnosis in relationship to treatment of hyperphenylalaninaemia. J Inherit Metab Dis. 1986;9 (Suppl 2):178–182. doi: 10.1007/BF01799702. [DOI] [PubMed] [Google Scholar]
- Dhondt J. L., Farriaux J. P. Atypical cases of phenylketonuria. Eur J Pediatr. 1987;146 (Suppl 1):A38–A43. doi: 10.1007/BF00442055. [DOI] [PubMed] [Google Scholar]
- Di Silvestre D., Pandya A., Koch R., Groffen J. DNA haplotype analyses of patients with hyperphenylalaninemia. Am J Hum Genet. 1990 Oct;47(4):706–711. [PMC free article] [PubMed] [Google Scholar]
- DiSilvestre D., Morris C., Heisterkamp N., Groffen J. A hypervariable RFLP within the ABR gene. Nucleic Acids Res. 1990 Oct 11;18(19):5924–5924. doi: 10.1093/nar/18.19.5924. [DOI] [PMC free article] [PubMed] [Google Scholar]
- John S. W., Rozen R., Scriver C. R., Laframboise R., Laberge C. Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet. 1990 May;46(5):970–974. [PMC free article] [PubMed] [Google Scholar]
- Kang E. S., Kaufman S., Gerald P. S. Clinical and biochemical observations of patients with atypical phenylketonuria. Pediatrics. 1970 Jan;45(1):83–92. [PubMed] [Google Scholar]
- Lidsky A. S., Güttler F., Woo S. L. Prenatal diagnosis of classic phenylketonuria by DNA analysis. Lancet. 1985 Mar 9;1(8428):549–551. doi: 10.1016/s0140-6736(85)91208-5. [DOI] [PubMed] [Google Scholar]
- Woo S. L. Molecular basis and population genetics of phenylketonuria. Biochemistry. 1989 Jan 10;28(1):1–7. doi: 10.1021/bi00427a001. [DOI] [PubMed] [Google Scholar]