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Article

Investigation of citrullinemia type I variants by in vitro expression studies.

Human mutation - 1 Oct 2008

Berning Christoph, Bieger Iris, Pauli Silke, Vermeulen Tim, Vogl Thomas, Rummel Till, Höhne Wolfgang, Koch Hans Georg, Rolinski Boris, Gempel Klaus, Häberle Johannes

Abstract excerpt

Mild citrullinemia is an allelic variant of classical citrullinemia type I also caused by deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS). Affected patients comprise a biochemical but no clinical phenotype. However, there is no reliable parameter allowing conclusions regarding the course of the disorder or its type of manifestation. The aim of this study was to test the importance of...

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PMID: 18473344
DOI: 10.1002/humu.20784

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Investigation of citrullinemia type I variants by in vitro expression studies.PMID 18473344Read ↗

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