Cross-sectional multicenter study of patients with urea cycle disorders in the United States
M Tuchman, B Lee, U Lichter-Konecki… - Molecular genetics and …, 2008 - Elsevier
Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency
of one of the proteins that is essential for ureagenesis. We report on a cross-sectional
investigation to determine clinical and laboratory characteristics of patients with UCD in the
United States. The data used for the analysis was collected at the time of enrollment of
individuals with inherited UCD into a longitudinal observation study. The study has been
conducted by the Urea Cycle Disorders Consortium within the Rare Diseases Clinical …
of one of the proteins that is essential for ureagenesis. We report on a cross-sectional
investigation to determine clinical and laboratory characteristics of patients with UCD in the
United States. The data used for the analysis was collected at the time of enrollment of
individuals with inherited UCD into a longitudinal observation study. The study has been
conducted by the Urea Cycle Disorders Consortium within the Rare Diseases Clinical …
