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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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Bibliografiske detaljer
Udgivet i:Mol Genet Metab
Main Authors: Summar, Marshall L., Koelker, Stefan, Freedenberg, Debra, Le Mons, Cynthia, Haberle, Johannes, Lee, Hye-Seung, Kirmse, Brian
Format: Artigo
Sprog:Inglês
Udgivet: 2013
Fag:
Online adgang: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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