苯丙酮尿症及其变异型中苯丙氨酸羟化系统的体内残余活性。 - Suppr

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超能文献

In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants.

作者信息

Trefz F K, Bartholomé K, Bickel H, Lutz P, Schmidt H, Seyberth H W

出版信息

J Inherit Metab Dis. 1981;4(2):101-2. doi: 10.1007/BF02263611.

DOI:10.1007/BF02263611

PMID:6790838

Abstract

摘要

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In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants.苯丙酮尿症及其变异型中苯丙氨酸羟化系统的体内残余活性。

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Penylalanine hydroxylation in phenylketonuria.苯丙酮尿症中的苯丙氨酸羟化作用。

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本文引用的文献

Phenylalaninaemia. Differential diagnosis.苯丙酮尿症。鉴别诊断。

Arch Dis Child. 1974 Nov;49(11):835-43. doi: 10.1136/adc.49.11.835.

Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.苯丙酮尿症和高苯丙氨酸血症患者苯丙氨酸羟化酶活性的测定。

Pediatr Res. 1975 Dec;9(12):899-903. doi: 10.1203/00006450-197512000-00006.

Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry.

Clin Chim Acta. 1976 Dec;73(3):431-8. doi: 10.1016/0009-8981(76)90144-3.

Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.

Clin Chim Acta. 1979 Dec 17;99(3):211-30. doi: 10.1016/0009-8981(79)90264-x.

Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.由于四氢生物蝶呤缺乏导致的非典型苯丙酮尿症。四氢生物蝶呤、二氢生物蝶呤和司来吉兰的诊断与治疗。

Clin Chim Acta. 1979 Apr 16;93(2):251-62. doi: 10.1016/0009-8981(79)90097-4.

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