Orphanet J Rare Dis. 2012 Sep 17;7:66. doi: 10.1186/1750-1172-7-66.
We report the development of an international registry for Neurodegeneration with Brain Iron Accumulation (NBIA), in the context of TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an EU-FP7 - funded project. This registry aims to combine scattered resources, integrate clinical and scientific knowledge, and generate a rich source for future research studies. This paper describes the content, architecture and future utility of the registry with the intent to capture as many NBIA patients as possible and to offer comprehensive information to the international scientific community.
我们报告了一个神经退行性疾病伴脑铁沉积（NBIA）国际注册中心的开发，这是在欧盟 FP7 资助的 TIRCON（治疗与铁相关的儿童期发病的神经退行性疾病）项目的背景下进行的。该注册中心旨在整合分散的资源，整合临床和科学知识，并为未来的研究提供丰富的资源。本文描述了该注册中心的内容、架构和未来的用途，旨在尽可能多地收集 NBIA 患者，并向国际科学界提供全面的信息。
