Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

OBJECTIVE: The implementation of newborn screening (NBS) programs for citrullinemia type 1 (CTLN1) and argininosuccinic aciduria (ASA) is subject to controversial debate. The aim of this study is to assess the impact of NBS on the metabolic disease course and clinical outcome of affected individuals...

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Publicado no:Mol Genet Metab
Main Authors: Posset, Roland, Kölker, Stefan, Gleich, Florian, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Scharre, Svenja, Probst, Joris, Walter, Magdalena E., Hoffmann, Georg F., Garbade, Sven F., Zielonka, Matthias
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8315358/
https://ncbi.nlm.nih.gov/pubmed/33288448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.10.013
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