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Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.
Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Ah Mew N, et al. J Pediatr. 2013 Feb;162(2):324-9.e1. doi: 10.1016/j.jpeds.2012.06.065. Epub 2012 Aug 15. J Pediatr. 2013. PMID: 22901741 Free PMC article.
OBJECTIVE: To compare the clinical course and outcome of patients diagnosed with one of 4 neonatal-onset urea cycle disorders (UCDs): deficiency of carbamyl phosphate synthase 1 (CPSD), ornithine transcarbamylase (OTCD), argininosuccinate synthase (ASD), or argininosuccina …
OBJECTIVE: To compare the clinical course and outcome of patients diagnosed with one of 4 neonatal-onset urea cycle disorders (UCDs): …
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Additional members of Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Tuchman M, et al. Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17. Mol Genet Metab. 2008. PMID: 18562231 Free PMC article.
Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the proteins that is essential for ureagenesis. ...The data used for the analysis was collected at the time of enrollment of individuals with inherited UCD into a longitudi …
Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the proteins that is essential f …