建立一个罕见病研究联盟：尿素循环障碍联盟。
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
机构信息
Children's National Medical Center, Washington, DC 20010, USA.
出版信息
Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S97-105. doi: 10.1016/j.ymgme.2010.01.014. Epub 2010 Feb 10.
Abstract
The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC's accomplishments over the first 6years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient advocacy groups, philanthropic foundations and biotech and pharmaceutical companies.
摘要
尿素循环障碍联盟（UCDC）是作为美国国立卫生研究院（NIH）建立的更大网络的一部分而成立的，旨在研究罕见疾病。本文回顾了 UCDC 在最初的 6 年中取得的成就，包括联盟的发展和组织方式、启动的临床研究，以及与患者权益团体、慈善基金会以及生物技术和制药公司建立伙伴关系的重要性。
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本文引用的文献
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Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.尿素循环障碍患儿的智力、适应能力及行为功能
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Urea cycle defects: management and outcome.尿素循环障碍：管理与结局
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Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症杂合子女性的代谢和神经心理学表型
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Neonatal screening for citrullinaemia.新生儿瓜氨酸血症筛查。
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