A longitudinal study of urea cycle disorders

ML Batshaw, M Tuchman, M Summar… - Molecular genetics and …, 2014 - Elsevier
Abstract The Urea Cycle Disorders Consortium (UCDC) is a member of the NIH funded Rare
Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle
disorders (UCDs) with initial enrollment beginning in 2006. The consortium consists of 14
sites in the US, Canada and Europe. This report summarizes data mining studies of 614
patients with UCDs enrolled in the UCDC's longitudinal study protocol. The most common
disorder is ornithine transcarbamylase deficiency, accounting for more than half of the …