Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria.
作者信息
Olek K, Oyanagi K, Wardenbach P
出版信息
Humangenetik. 1974 Apr 24;22(1):85-8. doi: 10.1007/BF00338140.
PMID:4837293
Abstract
摘要
相似文献
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Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria.尿中苯丙氨酸代谢产物的定量分析以检测苯丙酮尿症杂合子。
Humangenetik. 1974 Apr 24;22(1):85-8. doi: 10.1007/BF00338140.
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Statistical evaluation of a new method to detect carriers of phenylketonuria.一种检测苯丙酮尿症携带者新方法的统计学评估
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Aromatic acid excretion in phenylketonuria. Analysis of the unconjugated aromatic acids derived from phenylalanine.苯丙酮尿症中芳香酸的排泄。源自苯丙氨酸的未结合芳香酸的分析。
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Aromatic acids in urine of healthy infants, persistent hyperphenylalaninemia, and phenylketonuria, before and after phenylalanine load.苯丙氨酸负荷前后健康婴儿、持续性高苯丙氨酸血症和苯丙酮尿症尿液中的芳香酸。
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Influence of the phenylalanine dose on the aromatic acid excretion in phenylketonuric heterozygotes and controls after oral loading.口服负荷后苯丙氨酸剂量对苯丙酮尿症杂合子和对照者芳香酸排泄的影响。
Eur J Pediatr. 1978 Oct 12;129(3):191-5. doi: 10.1007/BF00442163.
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The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.利用气液色谱法对苯丙酮尿症、黑尿症和酪氨酸代谢症中的芳香酸进行研究。
Clin Chim Acta. 1972 Mar;37:455-62. doi: 10.1016/0009-8981(72)90469-x.
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[Urinary phenylalanine metabolites in hyperphenylalaninemia (author's transl)].高苯丙氨酸血症中的尿苯丙氨酸代谢产物（作者译）
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Urinary excretion of aromatic acids in hyperphenylalaninemic states: response to a protein challenge.高苯丙氨酸血症状态下芳香酸的尿排泄：对蛋白质激发试验的反应。
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[The determination of ortho-hydroxyphenylacetic acid in the urine and its significance in the diagnosis of phenylketonuria].[尿中邻羟基苯乙酸的测定及其在苯丙酮尿症诊断中的意义]
J Pharm Belg. 1967 Jul-Aug;22(7):243-56.
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Phenylketonuria: distribution of DNA diagnostic patterns in German families.苯丙酮尿症：德国家庭中DNA诊断模式的分布
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Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age--Part 1.新生儿期及6月龄蛋白质负荷试验期间尿液代谢物的检测——第1部分。
Eur J Pediatr. 1990;149 Suppl 1:S17-24. doi: 10.1007/BF02126294.
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A synopsis of the unconjugated acidic transamination metabolites of phenylalanine in phenylketonuria.苯丙酮尿症中苯丙氨酸非共轭酸性转氨代谢产物的综述。
J Inherit Metab Dis. 1992;15(1):136-44. doi: 10.1007/BF01800355.
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Statistical evaluation of a new method to detect carriers of phenylketonuria.一种检测苯丙酮尿症携带者新方法的统计学评估
Humangenetik. 1975 Sep 10;29(2):151-4. doi: 10.1007/BF00430353.
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Phenylketonuria in a patient with cystinuria.胱氨酸尿症患者合并苯丙酮尿症
Humangenetik. 1975 Aug 25;28(4):319-24. doi: 10.1007/BF00284804.
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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.
本文引用的文献
1
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.氨基酸的快速短柱色谱法。一种用于代谢疾病诊断和治疗的血液及尿液标本检测方法。
Anal Biochem. 1967 Aug;20(2):299-311. doi: 10.1016/0003-2697(67)90035-8.
2
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.
3
[A new method of detection of heterozygotes in phenylpyruvic oligophrenia].[苯丙酮尿性智力低下杂合子的一种新检测方法]
Rev Eur Etud Clin Biol. 1971 Apr;16(4):342-51.
4
Detection of phenylketonuric heterozygotes.苯丙酮尿症杂合子的检测。
Clin Chem. 1971 Jun;17(6):538-43.
5
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.利用气液色谱法对苯丙酮尿症、黑尿症和酪氨酸代谢症中的芳香酸进行研究。
Clin Chim Acta. 1972 Mar;37:455-62. doi: 10.1016/0009-8981(72)90469-x.
6
Phenylalanine loading and aromatic acid excretion in normal subjects and heterozygotes for phenylketonuria.苯丙酮尿症正常受试者和杂合子的苯丙氨酸负荷及芳香酸排泄
Clin Chim Acta. 1973 May 18;45(3):197-205. doi: 10.1016/0009-8981(73)90427-0.
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