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[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2014

Wang Qiao, Ding Yuan, Liu Yupeng, Li Xiyuan, Wu Tongfei, Song Jinqing, Wang Yujie, Yang Yanling

Abstract excerpt

OBJECTIVE: To investigate the clinical, biochemical and genetic profiles of 28 Chinese patients with glutaric aciduria type 1. METHOD: Twenty-eight patients with glutaric aciduria type 1 seen in the Department of Pediatrics, Peking University First Hospital from July 2003 to October 2013 were studied. The data of clinical course, laboratory examinations, cranial MRI and GCDH gene mutations of the patients were...

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Source

Identifiers

PMID: 25190159

Genes

GCDH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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