Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Five novel mutations in ARG1 gene in Chinese patients of argininemia.

Pediatric neurology - 1 Aug 2013

Wu Tong-Fei, Liu Yu-Peng, Li Xi-Yuan, Wang Qiao, Ding Yuan, Ma Yan-Yan, Song Jin-Qing, Yang Yan-Ling

Abstract excerpt

BACKGROUND: Argininemia is an autosomal recessive genetic disorder caused by hepatocyte arginase deficiency. It could be detected by blood amino acids analysis (high arginine) and confirmed by molecular diagnosis. The clinical manifestations in patients are similar to cerebral palsy so the diagnosis is usually much delayed. Reports of argininemia from mainland China are few, and genetic analyses have not been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acids
Share to Arginase
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carnitine

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Gas Chromatography-Mass Spectrometry

Source

Identifiers

PMID: 23859858
DOI: 10.1016/j.pediatrneurol.2013.04.026

Genes

ARG1

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Five novel mutations in ARG1 gene in Chinese patients of argininemia.PMID 23859858Read ↗

[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk].Semantic proximity Read ↗

Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.Semantic proximity Read ↗

Spastic gait, intellectual disability and seizures due to a rare mutation causing hyperargininemia.Semantic proximity Read ↗

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.Semantic proximity Read ↗

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.Semantic proximity Read ↗

Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.Semantic proximity Read ↗

Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India.Semantic proximity Read ↗

Identification Of A Novel Homozygous Intron 3 Splice Site (A>T) Mutation In The ARG1 Gene In Cerebral Palsy Pediatric Cases From Odisha, IndiaSemantic proximity Read ↗

Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.Semantic proximity Read ↗

Arginase deficiency with new phenotype and a novel mutation: contemporary summary.Semantic proximity Read ↗

Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.Semantic proximity Read ↗

Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.