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[尿液、血液和粪便中的卟啉以及δ-氨基乙酰丙酸和胆色素原]

[Porphyrins in urine, blood, and feces and delta-aminolevulinic acid and porphobilinogen].

作者信息

Kondo M

出版信息

Nihon Rinsho. 1995 Jun;53(6):1364-70.

PMID:7616648
Abstract

The analyses of porphyrins and their precursors in urine, blood and feces are essential for establishing the diagnosis of hereditary porphyrias and for screening for occupational or industrial disease caused by exposure to lead dust or fumes. While porphyrins can easily be separated and extracted by the solvent-extraction method or various chromatographic procedures and provide information of diagnostic importance, high-performance liquid chromatography can now be best used for the separation and determination of porphyrins for differential diagnostic purposes. Where there is need for making a definite diagnosis, determination of activities of enzymes involved in the heme biosynthesis in erythrocyte or lymphocyte and/or genetic diagnosis would be the most reliable way of addressing the problem. These diagnostic techniques, however, are based on highly specialized scientific knowledge and discipline and not suitable for general use. In this paper, a description is given of the most widely used biologic diagnostic criteria and the diagnostic technique underlying them in current use.

摘要

对尿液、血液和粪便中的卟啉及其前体进行分析,对于确诊遗传性卟啉病以及筛查因接触铅尘或铅烟所致的职业病至关重要。虽然卟啉可通过溶剂萃取法或各种色谱程序轻松分离和提取,并提供具有诊断意义的信息,但高效液相色谱法目前最适合用于分离和测定卟啉以进行鉴别诊断。在需要明确诊断的情况下,测定红细胞或淋巴细胞中参与血红素生物合成的酶的活性和/或进行基因诊断将是解决该问题最可靠的方法。然而,这些诊断技术基于高度专业化的科学知识和学科,并不适合普遍使用。本文介绍了目前最广泛使用的生物学诊断标准及其背后的诊断技术。

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