Early prediction of phenotypic severity in Citrullinemia Type 1

OBJECTIVE: Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy in the newborn period and individuals with a mild‐to‐modera...

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Bibliografski detalji
Izdano u:Ann Clin Transl Neurol
Glavni autori: Zielonka, Matthias, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Garbade, Sven F., Posset, Roland
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Research Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6764635/
https://ncbi.nlm.nih.gov/pubmed/31469252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50886
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