Classic phenylketonuria: heterozygote detection during pregnancy.
作者信息
Griffin R F, Humienny M E, Hall E C, Elsas L J
出版信息
Am J Hum Genet. 1973 Nov;25(6):646-54.
Abstract
摘要
相似文献
1
Classic phenylketonuria: heterozygote detection during pregnancy.经典型苯丙酮尿症：孕期杂合子检测
Am J Hum Genet. 1973 Nov;25(6):646-54.
2
3
Classic phenylketonuria: diagnosis through heterozygote detection.经典型苯丙酮尿症：通过杂合子检测进行诊断。
J Pediatr. 1975 Apr;86(4):512-7. doi: 10.1016/s0022-3476(75)80139-9.
4
Problems in the biochemical detection of heterozygotes for phenylketonuria.苯丙酮尿症杂合子生化检测中的问题
Clin Biochem. 1972 Mar;5(1):73-81. doi: 10.1016/s0009-9120(72)80010-9.
5
An enzymatic assay of plasma phenylalanine and tyrosine for the detection and management of phenylketonuria.
Biochem Med. 1981 Oct;26(2):211-21. doi: 10.1016/0006-2944(81)90048-x.
6
Discriminant analysis for detection of phenylketonuric heterozygotes.用于检测苯丙酮尿症杂合子的判别分析。
Soc Biol. 1971 Mar;18(1):64-72. doi: 10.1080/19485565.1971.9987901.
7
Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria compared with 26 normals.将13名苯丙酮尿症纯合子和19名杂合子的细胞内苯丙氨酸、酪氨酸和α-氨基丁酸浓度与26名正常人进行比较。
J Inherit Metab Dis. 1981;4(2):73-4. doi: 10.1007/BF02263597.
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The advantage of phenylalanine to tyrosine ratio for the early detection of phenylketonuria.苯丙氨酸与酪氨酸比值在苯丙酮尿症早期检测中的优势。
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.对有患病儿童家庭中的苯丙酮尿症杂合子进行检测。
Am J Hum Genet. 1978 May;30(3):293-301.
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Gender dimorphism in aspartame-induced impairment of spatial cognition and insulin sensitivity.阿斯巴甜诱导的空间认知和胰岛素敏感性损伤中的性别二态性。
PLoS One. 2012;7(4):e31570. doi: 10.1371/journal.pone.0031570. Epub 2012 Apr 3.
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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".足月苯丙酮尿症胎儿的脐血酪氨酸水平与“合理性假说”
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.对有患病儿童家庭中的苯丙酮尿症杂合子进行检测。
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.饮食、遗传学与智力迟钝：苯丙酮尿症杂合子母亲与胎儿之间的相互作用导致智商非特异性降低：支持理由假说的证据
Proc Natl Acad Sci U S A. 1978 Mar;75(3):1562-6. doi: 10.1073/pnas.75.3.1562.
本文引用的文献
1
MENDELIAN PROPORTIONS IN A MIXED POPULATION.混合群体中的孟德尔比例
Science. 1908 Jul 10;28(706):49-50. doi: 10.1126/science.28.706.49.
2
3
Identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses.
J Pediatr. 1962 Oct;61:603-9. doi: 10.1016/s0022-3476(62)80154-1.
4
The detection in the heterozygote of the metabolic effect of the recessive gene for phenylketonuria.苯丙酮尿症隐性基因代谢效应在杂合子中的检测。
Am J Hum Genet. 1958 Mar;10(1):53-60.
5
Phenylalanine tolerance tests on relatives of phenylketonuric children.对苯丙酮尿症患儿亲属进行苯丙氨酸耐量试验。
Am J Hum Genet. 1957 Dec;9(4):310-6.
6
Detection by phenylalanine tolerance tests of heterozygous carriers of phenylketonuria.通过苯丙氨酸耐量试验检测苯丙酮尿症杂合子携带者。
Nature. 1956 Dec 1;178(4544):1239-40. doi: 10.1038/1781239a0.
7
Determination of heterozygosity for phenylketonuria on the amino acid analyzer.在氨基酸分析仪上测定苯丙酮尿症的杂合性。
Clin Chim Acta. 1967 Oct;18(1):51-6. doi: 10.1016/0009-8981(67)90244-6.
8
Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis.通过柱色谱法和鉴别分析检测苯丙酮尿症杂合子。
Pediatr Res. 1969 Jul;3(4):287-97. doi: 10.1203/00006450-196907000-00004.
9
Phenylalanine tolerance tests. In families with phenylketonuria and hyperphenylalaninemia.苯丙氨酸耐量试验。在患有苯丙酮尿症和高苯丙氨酸血症的家庭中。
Am J Dis Child. 1969 Jun;117(6):626-35.
10
Heterogeneity in genetic control of phenylalanine metabolism in man.人类苯丙氨酸代谢遗传控制的异质性。
Nature. 1968 May 18;218(5142):677-8. doi: 10.1038/218677a0.
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