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Article

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

Annals of clinical and translational neurology - 1 Nov 2022

Scharre Svenja, Posset Roland, Garbade Sven F, Gleich Florian, Seidl Marie J, Druck Ann-Catrin, Okun Jürgen G, Gropman Andrea L, Nagamani Sandesh C S, Hoffmann Georg F, Kölker Stefan, Zielonka Matthias

Abstract excerpt

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 of the disease course at an early disease stage is very important to individually adjust therapies such as medical treatment...

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Identifiers

PMID: 36217298
DOI: 10.1002/acn3.51668
PMCID: PMC9639638

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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