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通过液相色谱法改进经典型与非典型苯丙酮尿症的诊断

Improved diagnosis of classical vs atypical phenylketonuria by liquid chromatography.

作者信息

Matsubara Y, Heininger J A, Lin Y Y

出版信息

Clin Chem. 1984 Feb;30(2):278-80.

PMID:6692534
Abstract

Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients require different treatment to prevent irreversible neurological damage. Measurement of pteridines in urine by liquid chromatography has been widely used for this purpose. Here we report a rapid, simplified liquid-chromatographic method for simultaneously measuring urinary biopterin, neopterin, and creatinine. Unlike previous methods, this method involves neither tedious cleanup procedures nor special equipment.

摘要

高苯丙氨酸血症婴儿中的非典型苯丙酮尿症必须迅速诊断并与经典苯丙酮尿症相鉴别,因为这些患者需要不同的治疗方法以预防不可逆的神经损伤。通过液相色谱法测定尿液中的蝶啶已广泛用于此目的。在此,我们报告一种快速、简化的液相色谱法,用于同时测定尿生物蝶呤、新蝶呤和肌酐。与以往方法不同,该方法既不涉及繁琐的净化程序,也不需要特殊设备。

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1
Improved diagnosis of classical vs atypical phenylketonuria by liquid chromatography.通过液相色谱法改进经典型与非典型苯丙酮尿症的诊断
Clin Chem. 1984 Feb;30(2):278-80.
2
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.非典型苯丙酮尿症患者的新蝶呤和生物蝶呤水平
J Neurochem. 1980 Oct;35(4):898-904. doi: 10.1111/j.1471-4159.1980.tb07088.x.
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Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.鸟苷三磷酸环化水解酶I缺乏症:通过常规尿液蝶呤筛查进行早期诊断。
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Determination of marker pteridins and biopterin reduced forms, tetrahydrobiopterin and dihydrobiopterin, in human urine, using a post-column photoinduced fluorescence liquid chromatographic derivatization method.采用柱后光致荧光液相色谱衍生化法测定人尿中标记蝶啶及生物蝶呤还原形式(四氢生物蝶呤和二氢生物蝶呤)。
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Altered urinary excretion of pteridines in neoplastic disease. Determination of biopterin, neopterin, xanthopterin, and pterin.肿瘤疾病中蝶啶类物质尿排泄的改变。生物蝶呤、新蝶呤、黄蝶呤和蝶呤的测定。
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[Increased urinary excretion of neopterin in patients with malignant tumors and with virus diseases (author's transl)].
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