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Classic phenylketonuria: heterozygote detection during pregnancy.
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Classic phenylketonuria: diagnosis through heterozygote detection.
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Problems in the biochemical detection of heterozygotes for phenylketonuria.
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An enzymatic assay of plasma phenylalanine and tyrosine for the detection and management of phenylketonuria.
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Discriminant analysis for detection of phenylketonuric heterozygotes.
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Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria compared with 26 normals.
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Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals.
Hum Genet. 1980;54(2):213-6. doi: 10.1007/BF00278975.
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The advantage of phenylalanine to tyrosine ratio for the early detection of phenylketonuria.
Clin Chim Acta. 1998 Feb 23;270(2):177-81. doi: 10.1016/s0009-8981(97)00191-5.
10
Phenylketonuria heterozygote detection in families with affected children.
Am J Hum Genet. 1978 May;30(3):293-301.
引用本文的文献
1
Gender dimorphism in aspartame-induced impairment of spatial cognition and insulin sensitivity.
PLoS One. 2012;7(4):e31570. doi: 10.1371/journal.pone.0031570. Epub 2012 Apr 3.
2
Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia.
J Inherit Metab Dis. 1993;16(1):105-9. doi: 10.1007/BF00711323.
3
Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6175-8. doi: 10.1073/pnas.77.10.6175.
4
Phenylketonuria heterozygote detection in families with affected children.
Am J Hum Genet. 1978 May;30(3):293-301.
5
Diet, genetics, and mental retardation interaction between phenylketonuric heterozygous mother and fetus to produce nonspecific diminution of IQ: evidence in support of the justification hypothesis.
Proc Natl Acad Sci U S A. 1978 Mar;75(3):1562-6. doi: 10.1073/pnas.75.3.1562.
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