Early prediction of phenotypic severity in Citrullinemia Type 1

Early prediction of phenotypic severity in Citrullinemia Type 1

Abstract 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‐t...

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Main Authors: Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset, the Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.50886

Internet

https://doi.org/10.1002/acn3.50886

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