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使用简单的苯丙氨酸负荷试验区分苯丙酮尿症患者和持续性高苯丙氨酸血症患者。

Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.

作者信息

Blitzer M G, Bailey-Wilson J E, Shapira E

出版信息

Clin Chim Acta. 1985 Dec 13;153(2):137-42. doi: 10.1016/0009-8981(85)90164-0.

DOI:10.1016/0009-8981(85)90164-0
PMID:4064343
Abstract

A simple, oral phenylalanine loading test was developed in order to discriminate between controls, phenylketonuria and persistent hyperphenylalaninemia patients. Only three capillary blood specimens for quantitation of phenylalanine and tyrosine over a short duration (90 min) were required. Using stepwise multivariate discriminant analysis, accurate classification was achieved for 27 controls, 12 patients with phenylketonuria and 6 with persistent hyperphenylalaninemia. This loading test and analysis is both simpler and less expensive than those previously described.

摘要

为了区分对照组、苯丙酮尿症患者和持续性高苯丙氨酸血症患者,开发了一种简单的口服苯丙氨酸负荷试验。在短时间内(90分钟)仅需采集三份用于定量苯丙氨酸和酪氨酸的毛细血管血标本。通过逐步多元判别分析,对27名对照组、12名苯丙酮尿症患者和6名持续性高苯丙氨酸血症患者实现了准确分类。这种负荷试验和分析比先前描述的方法更简单、成本更低。

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1
Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.使用简单的苯丙氨酸负荷试验区分苯丙酮尿症患者和持续性高苯丙氨酸血症患者。
Clin Chim Acta. 1985 Dec 13;153(2):137-42. doi: 10.1016/0009-8981(85)90164-0.
2
[Phenylalanine metabolites in the urine after oral phenylalanine loading. Significance for the discrimination between classical phenylketonuria and variations of hyperphenylalaninemia (heterozygotes and homozygotes)].口服苯丙氨酸负荷后尿中的苯丙氨酸代谢产物。对鉴别经典型苯丙酮尿症与高苯丙氨酸血症变异型(杂合子和纯合子)的意义
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Neonatal hyperphenylalaninemia: a differential diagnosis.新生儿高苯丙氨酸血症:鉴别诊断
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引用本文的文献

1
Atypical cases of phenylketonuria.苯丙酮尿症的非典型病例。
Eur J Pediatr. 1987;146 Suppl 1:A38-43. doi: 10.1007/BF00442055.
2
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.经典型苯丙酮尿症患者体内存在显著的苯丙氨酸羟基化作用。
J Clin Invest. 1990 Jul;86(1):317-22. doi: 10.1172/JCI114701.
3
Genetic analysis of treated and untreated phenylketonuria in one family.一个家庭中经治疗和未经治疗的苯丙酮尿症的基因分析。
J Med Genet. 1990 Sep;27(9):564-8. doi: 10.1136/jmg.27.9.564.