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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Ann Clin Transl Neurol
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Research Articles
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars