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Article

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Journal of inherited metabolic disease - 1 May 2016

Huemer Martina, Carvalho Daniel R, Brum Jaime M, Ünal Özlem, Coskun Turgay, Weisfeld-Adams James D, Schrager Nina L, Scholl-Bürgi Sabine, Schlune Andrea, Donner Markus G, Hersberger Martin, Gemperle Claudio, Riesner Brunhilde, Ulmer Hanno, Häberle Johannes, Karall Daniela

Abstract excerpt

BACKGROUND: Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiology. METHODS: Clinical data were retrieved retrospectively from physicians using a questionnaire...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27038030
DOI: 10.1007/s10545-016-9928-y

Genes

ARG1
GAA

Provenance

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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