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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab
Hauptverfasser: Summar, Marshall L., Koelker, Stefan, Freedenberg, Debra, Le Mons, Cynthia, Haberle, Johannes, Lee, Hye-Seung, Kirmse, Brian
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
Schlagworte:
Online Zugang: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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