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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Vydáno v:Mol Genet Metab
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
Témata:
Article
On-line přístup: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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