Cross-Sectional Multi-Center Study of Patients with Urea Cycle Disorders in the United States

Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the protein 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 us...

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Autori principali: Tuchman, Mendel, Lee, Brendan, Lichter-Konecki, Uta, Summar, Marshall L., Yudkoff, Marc, Cederbaum, Stephen D., Kerr, Douglas S., Diaz, George A., Seashore, Margaretta R., Lee, Hye-Seung, McCarter, Robert J., Krischer, Jeffrey P., Batshaw, Mark L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2640937/
https://ncbi.nlm.nih.gov/pubmed/18562231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.05.004
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