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。 - Suppr

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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.

作者信息

Thalhammer O, Pollak A, Lubec G, Königshofer H

出版信息

J Inherit Metab Dis. 1981;4(2):73-4. doi: 10.1007/BF02263597.

DOI:10.1007/BF02263597

PMID:6790854

Abstract

摘要

相似文献

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.

Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals.对13名苯丙酮尿症（PKU）纯合子、19名杂合子以及26名正常人的细胞内苯丙氨酸、酪氨酸和α-氨基丁酸浓度进行了比较。

Hum Genet. 1980;54(2):213-6. doi: 10.1007/BF00278975.

[Intracellular concentration of phenylalanine, tyrosine and alpha-amino butyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals (author's transl)].与26名正常人相比，13名苯丙酮尿症（PKU）纯合子和19名杂合子中苯丙氨酸、酪氨酸和α-氨基丁酸的细胞内浓度（作者译）

Klin Padiatr. 1980 Nov;192(6):608-12. doi: 10.1055/s-2008-1035651.

Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals.与正常人相比，苯丙酮尿症（PKU）和高苯丙氨酸血症纯合子及杂合子的细胞内苯丙氨酸和酪氨酸浓度。

Hum Genet. 1982;60(4):320-1. doi: 10.1007/BF00569211.

Detection of heterozygotes for phenylketonuria. Total body phenylalanine clearance and concentrations of phenylalanine and tyrosine in the plasms of fasting subjects compared.

Clin Chem. 1977 Sep;23(9):1654-60.

Heterozygote detection in phenylketonuria.苯丙酮尿症杂合子检测

Clin Genet. 1977 Feb;11(2):137-46. doi: 10.1111/j.1399-0004.1977.tb01291.x.

Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio.苯丙酮尿症杂合子检测。通过测定杂合子似然比来衡量苯丙氨酸负荷试验的鉴别能力及解读结果。

J Med Genet. 1975 Dec;12(4):327-33. doi: 10.1136/jmg.12.4.327.

Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level?19名苯丙酮尿症（PKU）杂合子和26名正常人的细胞内苯丙氨酸和酪氨酸浓度。杂合子中较高的浓度值能否解释其智力水平较低的现象？

Hum Genet. 1979 Jul 18;49(3):333-6. doi: 10.1007/BF00569353.

Different phenotypes for phenylalanine hydroxylase deficiency.苯丙氨酸羟化酶缺乏症的不同表型。

Ann Clin Biochem. 1977 May;14(3):124-34. doi: 10.1177/000456327701400125.

Plasma phenylalanine and tyrosine levels during the day in normal female controls and female obligate phenylketonuria heterozygotes.

Enzyme. 1982;28(4):404-7. doi: 10.1159/000459132.

引用本文的文献

Hum Genet. 1982;60(4):320-1. doi: 10.1007/BF00569211.

本文引用的文献

A lithium buffer system for accelerated single-column amino acid analysis in physiological fluids.用于生理体液中加速单柱氨基酸分析的锂缓冲系统。

Anal Biochem. 1971 Mar;40(1):35-42. doi: 10.1016/0003-2697(71)90081-9.

Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g.从人血中分离单核细胞和粒细胞。通过一次离心分离单核细胞，通过离心和1g沉降相结合的方法分离粒细胞。

Scand J Clin Lab Invest Suppl. 1968;97:77-89.

Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?苯丙酮尿症（PKU）杂合子的智力水平（智商）。PKU基因是否也通过除升高血液苯丙氨酸水平以外的其他方式起作用？

Hum Genet. 1977 Oct 14;38(3):285-8. doi: 10.1007/BF00402154.

Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria.停止低苯丙氨酸饮食对苯丙酮尿症患儿智力发育的影响。

Br Med J. 1978 Sep 9;2(6139):723-6. doi: 10.1136/bmj.2.6139.723.

Termination of dietary treatment in phenylketonuria.苯丙酮尿症饮食治疗的终止

Eur J Pediatr. 1977 Nov 4;126(4):253-62. doi: 10.1007/BF00477051.

Phenylalanine metabolism and intellectual functioning among carriers of phenylketonuria and hyperphenylalaninaemia.苯丙酮尿症和高苯丙氨酸血症携带者的苯丙氨酸代谢与智力功能

Lancet. 1977 Apr 9;1(8015):767-71. doi: 10.1016/s0140-6736(77)92955-5.

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