Suppr超能文献

遗传性髓过氧化物酶缺乏症:12例病例研究

Hereditary myeloperoxidase deficiency: study of 12 cases.

作者信息

Larrocha C, Fernández de Castro M, Fontan G, Viloria A, Fernández-Chacón J L, Jiménez C

出版信息

Scand J Haematol. 1982 Nov;29(5):389-97. doi: 10.1111/j.1600-0609.1982.tb00613.x.

Abstract

12 cases of hereditary myeloperoxidase (MPO) deficiency are reported. Histochemical stainings, lysosomal enzyme determinations, electron microscopic study of MPO and granulocytic function were performed. Family studies on 2 generations were carried out in 5 patients and histochemical stainings and biochemical lysosomal enzyme determinations were done. MPO deficiency was found to follow autosomal recessive inheritance and only rarely to have clinical effects.

摘要

报告了12例遗传性髓过氧化物酶(MPO)缺乏症病例。进行了组织化学染色、溶酶体酶测定、MPO的电子显微镜研究以及粒细胞功能研究。对5例患者进行了两代人的家系研究,并进行了组织化学染色和生化溶酶体酶测定。发现MPO缺乏症遵循常染色体隐性遗传,且很少产生临床影响。

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