Results 171 to 178 of about 2,273 (178)

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

Human Genetics, 2011
Dystonias are a clinically and genetically heterogeneous group of movement disorders characterized by involuntary, sustained muscular contractions affecting one or more sites of the body, and abnormal postures. In this study, we describe an autosomal recessive family that presents with a progressive and early-onset form of generalized dystonia.
Jose Felix, Marti-Masso, Javier, Ruiz-Martínez, Vladimir, Makarov, Adolfo, López de Munain, Ana, Gorostidi, Alberto, Bergareche, Seungtai, Yoon, Joseph D, Buxbaum, Coro, Paisán-Ruiz   +8 more
openaire   +2 more sources

[Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2011
To investigate the mutations of glutaryl-CoA dehydrogenase (GCDH) gene in patients with glutaric aciduria type I(GA-1).Genomic DNA was extracted from peripheral blood cells of the eight probands with GA-1 who were diagnosed by urine and blood analyses.
Jing, Chen, Zhao-xia, Wang, Jin-li, Zhang, Yan-ling, Yang, Jing, Chen, Yi-ning, Huang   +5 more
openaire   +1 more source

Taql polymorphism in intron 2 of the GCDH gene

Human Molecular Genetics, 1994
J C, Haworth, R, Singal, S I, Goodman, C R, Greenberg   +3 more
openaire   +2 more sources

[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, 2013
To review clinical features of four male patients with glutaric academia type I and screen glutaryl-CoA dehydrogenase (GCDH) gene mutations.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 ...
Peng -qiang, Wen, Guo-bing, Wang, Xiao-hong, Liu, Zhan-ling, Chen, Yue, Shang, Dong, Cui, Ping, Song, Quan, Yuan, Shu-li, Chen, Jian-xiang, Liao, Cheng-rong, Li   +10 more
openaire   +1 more source

[Analysis of GCDH gene mutations in 3 patients from Fujian area with glutaric academia type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).Serum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic
Yao, Chen, Qingying, Lin, Yinglin, Zeng, Hong, Zhao, Weifen, Chen, Jinfu, Zhou, Yueqing, Su, Feng, Lin, Honghua, Zhang, Wenbin, Zhu   +9 more
openaire   +1 more source

Gene symbol: GCDH. Disease: Glutaricacidaemia I.

Human genetics, 2010
Wei-De, Lin, Wuh-Liang, Hwu, Chung-Hsing, Wang, Chih-Ping, Chen, Fuu-Jen, Tsai   +4 more
openaire   +1 more source

Integrative multiomics elucidate crotonylation-associated GCDH in Parkinson’s disease pathogenesis via metabolome remodeling

Mammalian Genome
Jia Fu, Jing Zhao, Na Mi, Chao Zhang, Yali Zhang, Lifen Yao   +5 more
openaire   +1 more source

Identification of new heterozygous mutations in GCDH gene in children with atopic dermatitis

Clinical Nutrition ESPEN
L. Batbileg, S. Baasanjav, K. Tulgaa, K. Naymdavaa, E. Yadamsuren, B. Biziya   +5 more
openaire   +1 more source