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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Publicado en:Ann Clin Transl Neurol
Autores principales: Zielonka, Matthias, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Garbade, Sven F., Posset, Roland
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea: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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