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由生物医学中心出版。ISSN: 1750-1172。孤儿病杂志是一个开放获取，同行评审的在线杂志，包括所有方面的罕见病和孤儿药物。该杂志欢迎高质量的评论文章，涵盖了诊断、临床描述、临床检查和管理的所有方面，以及罕见疾病的病因学、流行病学和遗传咨询。它汇集了基础研究和临床实践的知识。通过提供对优化诊断和管理至关重要的信息，孤儿院罕见病杂志旨在为改善罕见病患者的护理做出贡献。该杂志为研究人员和临床医生提供了机会，发表罕见疾病和孤儿药物领域的最新进展，以及发表新的综合征和临床试验结果，包括那些阴性结果。

Published by BioMed Central. ISSN: 1750-1172.Orphanet Journal of Rare Diseases is an open access, peer-reviewed online journal that encompasses all aspects of rare diseases and orphan drugs. The journal welcomes high quality review articles encompassing all aspects of diagnosis, clinical description, clinical work-up and management as well as aetiopathogenesis, *epidemiology, and genetic counselling of rare diseases. It brings together knowledge of basic research and clinical practice. By providing this information, crucial for optimised diagnosis and management, the Orphanet Journal of Rare Diseases aims to contribute to the improved care of patients affected by rare diseases. The journal provides researchers and clinicians with the opportunity to publish state of the art developments in the area of rare diseases and orphan drugs as well as to publish new syndromes and results of clinical trials including those with negative results.