Suppr超能文献

Gaucher Disease: An Underdiagnosed Pathology in the Eastern Moroccan Population.

作者信息

Bouayadi Ouardia, Lyagoubi Amina, Aarab Adnane, Lamrabat Somiya, Berhili Abdelilah, Bensalah Mohammed, Seddik Rachid

机构信息

Laboratory of Hematology, Mohammed VI University Hospital, Oujda, Morocco.

Faculty of Medicine and Pharmacy, Mohammed the First University, Oujda, Morocco.

出版信息

EJIFCC. 2019 Mar 1;30(1):82-87. eCollection 2019 Mar.

Abstract

Gaucher disease (GD) is a lysosomal storage disease. It corresponds to a congenital deficit in β-glucocerebrosidase. This pathology should be considered in the presence of unexplained splenomegaly, with or without signs of haemorrhage, skeletal manifestations or hepatomegaly. The diagnosis is based on the measurement of the β-glucocerebrosidase activity but the preanalytical process should be respected in order to avoid the under-diagnosis of this disorder and the delay of its management. We report two cases of Gaucher disease collected at Mohammed VI University Hospital and Al Farabi regional hospital in Oujda. We have emphasized the need for a reference center for overload diseases.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046d/6416808/ee16d23a027e/ejifcc-30-082-g001.jpg

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