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

Author:

Seminara Jennifer,Tuchman Mendel,Krivitzky Lauren,Krischer Jeffrey,Lee Hye-Seung,LeMons Cynthia,Baumgartner Matthias,Cederbaum Stephen,Diaz George A.,Feigenbaum Annette,Gallagher Renata C.,Harding Cary O.,Kerr Douglas S.,Lanpher Brendan,Lee Brendan,Lichter-Konecki Uta,McCandless Shawn E.,Merritt J. Lawrence,Oster-Granite Mary Lou,Seashore Margretta R.,Stricker Tamar,Summar Marshall,Waisbren Susan,Yudkoff Marc,Batshaw Mark L.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference19 articles.

1. R.L. Richesson, K. Young, J. Lloyd, T. Adams, H. Guillette, J. Malloy, J.P. Krischer, An Automated Communication System in a Contact Registry for Persons with Rare Diseases: Tools for Retaining Potential Clinical Research Participants, AMIA Annu. Symp. Proc., Oct 11, 2007, 1094, PIMD: 18694191.

2. S. Brusilow, N.E. Maestri, Urea cycle disorders: diagnosis, pathophysiology, therapy, In: L.A. Barness, D.C. DeVivo, M.M. Kaback, G. Morrow, F.A. Oski, A.M. Rudolph (Eds.), Advances in Pediatrics, Mosby, Chicago,1996, Vol 43, p. 127.

3. Estimated frequency of urea cycle enzymopathies in Japan;Nagata;Am. J. Med. Genet.,1991

4. The urea cycle disorders consortium of the rare diseases clinical research network. Cross-sectional multicenter study of patients with urea cycle disorders in the United States;Tuchman;Mol Genet Metab.,2008

5. Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders;Krivitzky;Pediatr. Res.,2009

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