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Article

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Human mutation - 1 May 2020

Zielonka Matthias, Garbade Sven F, Gleich Florian, Okun Jürgen G, Nagamani Sandesh C S, Gropman Andrea L, Hoffmann Georg F, Kölker Stefan, Posset Roland

Abstract excerpt

Argininosuccinic aciduria (ASA) is an inherited urea cycle disorder and has a highly variable phenotypic spectrum ranging from individuals with lethal hyperammonemic encephalopathy, liver dysfunction, and cognitive deterioration, to individuals with a mild disease course. As it is difficult to predict the phenotypic severity, we aimed at identifying a reliable disease prediction model. We applied a biallelic...

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Identifiers

PMID: 31943503
DOI: 10.1002/humu.23983
PMCID: PMC7428858

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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