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The incidence of urea cycle disorders

A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase deficiency, are currently detected by newborn screening. We used newborn screening data on over 6 million births and data from the large US and European longitudinal regis...

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Podrobná bibliografie
Vydáno v:Mol Genet Metab
Hlavní autoři: Summar, Marshall L., Koelker, Stefan, Freedenberg, Debra, Le Mons, Cynthia, Haberle, Johannes, Lee, Hye-Seung, Kirmse, Brian
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4364413/
https://ncbi.nlm.nih.gov/pubmed/23972786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.07.008
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