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Article

Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022

Dorum Sevil, Havalı Cengiz

Abstract excerpt

BACKGROUND: Arginase-1 deficiency is a rare, autosomal recessively inherited disorder of the urea cycle. In this study, we describe the clinical and molecular details of six patients who were diagnosed with argininemia, and we describe two of the patients with hyperargininemia who carried two novel variations of the Arginase-1 gene. METHODS: The clinical and demographic characteristics of the patients were...

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Identifiers

PMID: 34343381
DOI: 10.1111/ped.14945

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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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