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A quick reference guide for rare disease: supporting rare disease management in general practice.

作者信息

Crowe Ashleen, McAneney Helen, Morrison Patrick J, Cupples Margaret E, McKnight Amy Jayne

机构信息

NI Genomic Medicine Centre, Centre for Public Health, Queen's University Belfast, Belfast.

Regional Genetics Centre, Belfast City Hospital, Belfast.

出版信息

Br J Gen Pract. 2020 Apr 30;70(694):260-261. doi: 10.3399/bjgp20X709853. Print 2020 May.

DOI:10.3399/bjgp20X709853
PMID:32354833
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7194765/
Abstract
摘要

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本文引用的文献

1
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.估算罕见病的累计点患病率：对孤儿药数据库的分析。
Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16.
2
FindZebra: a search engine for rare diseases.FindZebra：罕见病搜索引擎。
Int J Med Inform. 2013 Jun;82(6):528-38. doi: 10.1016/j.ijmedinf.2013.01.005. Epub 2013 Feb 23.