Suppr超能文献

先天性红细胞生成性卟啉症一例的治疗(作者译)

[The management of a case of congenital erythropoetic prophyria (author's transl)].

作者信息

Jung E G

出版信息

Dtsch Med Wochenschr. 1977 Feb 25;102(8):279-80. doi: 10.1055/s-0028-1104878.

Abstract

The present condition of a now 18-year-old boy with congenital erythropoetic porphyria is reported. The case had been first described 15 years ago in this journal (Heilmeyer, L., et al.: Dtsch. med. Wschr.88 [1963], 2449). Physical and mental development has been normal. He has been on a maintenance dose of beta-carotene, 50 mg daily, for the last four years except during the winter months. This has allowed him to be in the open air in normal clothing. At the same time, the improvement in light tolerance has enable him to pursue normally the work of a biology laboratory technician. The genetic features are such that neither marriage nor children need be advised against.

摘要

报告了一名现年18岁的先天性红细胞生成性卟啉病男孩的当前状况。该病例于15年前首次在本杂志中描述(Heilmeyer, L.等人:《德国医学周刊》88 [1963],2449)。其身体和智力发育正常。在过去四年中,除冬季外,他一直每日服用维持剂量的β-胡萝卜素50毫克。这使他能够穿着正常衣物待在户外。同时,对光耐受性的改善使他能够正常从事生物学实验室技术员的工作。其遗传特征表明无需建议他不要结婚或生育。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验