Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Abstract Objective Ornithine transcarbamylase deficiency (OTC‐D) is an X‐linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even asymptomatic individuals, the prediction o...

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Main Authors: Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for 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 2022-11-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51668

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https://doi.org/10.1002/acn3.51668

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