Suppr超能文献

[东德的威尔逊氏病:回顾与展望——一项评估]

[Wilson's disease in East Germany: in retrospect and perspectives -- an evaluation].

作者信息

Lössner J, Bachmann H, Siegemund R, Kühn H J, Günther K

机构信息

Klinik für Neurologie der Karl-Marx-Universität Leipzig.

出版信息

Psychiatr Neurol Med Psychol (Leipz). 1990 Oct;42(10):585-600.

PMID:2077550
Abstract

Wilson's disease is an autosomal recessive inherited metabolic disorder due to a disturbance of copper metabolism. Although the primary genetic defect is not known a longlife treatment is necessary for establishing a negative copper balance by removing the metal of the abnormal body stores. Experiences in handling with this disease in our country over a period of 20 years are reported. Especially epidemiologic findings, the diagnostic procedures and the strategies in therapeutic regimes are discussed. Future advances in genomic diagnostics are mentioned.

摘要

威尔逊氏病是一种常染色体隐性遗传代谢紊乱疾病,由铜代谢紊乱引起。虽然原发性基因缺陷尚不清楚,但通过清除体内异常蓄积的金属来建立负铜平衡,长期治疗是必要的。本文报告了我国20年来处理这种疾病的经验。特别讨论了流行病学发现、诊断程序和治疗方案中的策略。还提到了基因组诊断的未来进展。

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