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[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2012

Wen Peng -qiang, Wang Guo-bing, Liu Xiao-hong, Chen Zhan-ling, Shang Yue, Cui Dong, Song Ping, Yuan Quan, Chen Shu-li, Liao Jian-xiang, Li Cheng-rong

Abstract excerpt

OBJECTIVE: To review clinical features of four male patients with glutaric academia type I and screen glutaryl-CoA dehydrogenase (GCDH) gene mutations. METHODS: The 4 patients underwent brain computer tomography (CT) and magnetic resonance imaging (MRI) analyses. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was...

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Identifiers

PMID: 23225040
DOI: 10.3760/cma.j.issn.1003-9406.2012.06.004

Genes

GCDH

Variants

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