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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium


Seminara, J; Tuchman, M; Krivitzky, L; Krischer, J; Lee, H S; Lemons, C; Baumgartner, M R; Cederbaum, S; Diaz, G A; Feigenbaum, A; Gallagher, R C; Harding, O; Kerr, D S; Lanpher, B; Lee, B; Lichter-Konecki, U; McCandless, E; Merritt, J L; Oster-Granite, M L; Seashore, M R; Stricker, T; Summar, M; Waisbren, S; Yudkoff, M; Batshaw, M L (2010). Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Molecular Genetics and Metabolism, 100(Sup 1):S97-S105.

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.

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.

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35 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Center for Integrative Human Physiology
04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2010
Deposited On:14 Jan 2011 20:48
Last Modified:05 Apr 2016 14:25
Publisher:Elsevier
ISSN:1096-7192
Publisher DOI:https://doi.org/10.1016/j.ymgme.2010.01.014
PubMed ID:20188616

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