Suppr超能文献

I型先天性红细胞生成异常性贫血。来自沙特阿拉伯的两名同胞的报告。

Congenital dyserythropoietic anaemia type I. Report of two siblings from Saudi Arabia.

作者信息

al-Fawaz I M, al-Mashhadani S A

机构信息

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

出版信息

Acta Haematol. 1995;93(1):50-3. doi: 10.1159/000204092.

Abstract

This study describes two siblings (a boy and a girl) affected with congenital dyserythropoietic anaemia type I. It is the seventh familial occurrence reported. The girl presented in the neonatal period with anaemia, jaundice and hepatosplenomegaly and required 4 blood transfusions in the first 7 months of life, while her brother was discovered to be anaemic and jaundiced only at the age of 2 years and did not receive any blood transfusion.

摘要

本研究描述了两名患有I型先天性红细胞生成异常性贫血的同胞(一名男孩和一名女孩)。这是报告的第七例家族性病例。该女孩在新生儿期即出现贫血、黄疸和肝脾肿大,在出生后的前7个月需要输血4次,而她的弟弟直到2岁时才被发现贫血和黄疸,未接受任何输血治疗。

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