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意大利人群样本中迟发性皮肤卟啉病(PCT)的发病率。

Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population.

作者信息

D'Alessandro L, Griso D, Biolcati G, Macrì A, Topi G C

机构信息

Centro Studi per le Porfirie, Istituto S. Gallicano, Rome, Italy.

出版信息

Arch Dermatol Res. 1992;284(4):212-4. doi: 10.1007/BF00375795.

Abstract

The determination of the enzymatic activity of URO-D in erythrocytes is the screening method used for differentiation between hereditary and non-hereditary forms of porphyria cutanea tarda (PCT). The aim of the present work was to establish the relative frequencies of the symptomatic and hereditary forms by the determination of the URO-D enzyme in the PCT patients who were regularly treated at the Centre for Porphyrins in our Institute. In the course of this work we also examined the statistical properties of the distributions of both normal and porphyric subjects, so as to be able to suggest values for discriminating between normal subjects and the various types of porphyric subjects.

摘要

测定红细胞中尿卟啉原脱羧酶(URO-D)的酶活性是用于区分迟发性皮肤卟啉症(PCT)的遗传性和非遗传性形式的筛查方法。本研究的目的是通过测定在我们研究所卟啉中心接受常规治疗的PCT患者的URO-D酶,来确定症状性和遗传性形式的相对频率。在这项研究过程中,我们还检查了正常人和卟啉症患者分布的统计特性,以便能够提出区分正常人和各种类型卟啉症患者的值。

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