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Article

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

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2015

Wu Tongfei, Li Xiyuan, Ding Yuan, Liu Yupeng, Song Jinqing, Wang Qiao, Li Mengqiu, Qin Yaping, Yang Yanling

Abstract excerpt

OBJECTIVE: Argininemia is a rare disorder of urea cycle defect. The clinical manifestations of this disorder are similar to those of cerebral palsy so that the diagnosis is usually much delayed. This study aimed to investigate the phenotypes and genotypes of seven Chinese patients suffering from argininemia. METHOD: Three boys and four girls with spastic tetraplegia were diagnosed as argininemia by blood...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26310552

Genes

ARG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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