Results 151 to 160 of about 6,761,337 (191)

Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

Molecular Genetics and Metabolism, 2000
Two novel (G390V and X439W) and five already known mutations were identified in a total of 14 GA I alleles from Italy and Portugal. The substitution X439W is a rare type of mutation, which breaks the stop codon of the GCDH gene. As described in other populations, R402W was the most common mutation.
Busquets, C, Soriano, M, de Almeida, IT, Garavaglia, B, Rimoldi, M, Rivera, I, Uziel, G, Cabral, A, Coll, MJ, Ribes, A   +9 more
openaire   +4 more sources

[Mutation analysis of GCDH gene 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, 2015
To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene.All of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass ...
Qi, Liu, Yiping, Chen, Wei, Chen
openaire   +3 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   +3 more sources

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   +3 more sources

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   +2 more sources

[Analysis of GCDH gene variant in a child with Glutaric aciduria type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.The proband was found to harbor compound heterozygous variants of the GCDH gene, namely c.523G>A and c.1190T>C ...
Hanjun, Yin, Qiong, Xue, Suyue, Zhu
openaire   +1 more source

[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

[Analysis of GCDH gene variant in a child with Glutaric aciduria type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
H. Yin, Qiong-Yao Xue, Suyue Zhu
semanticscholar   +1 more source

Glutaric aciduria type-1 in a teenager with nutritional vitamin B12 deficiency: coexistence of two treatable conditions

BMJ Case Reports
Nutritional deficiency-associated morbidity is still widespread in India and occurs due to various factors like lifestyle, diet and social and cultural issues.
V. Gowda, Amaresh Roy, V. R. Challa, Varunvenkat M. Srinivasan, Saini Jitender   +4 more
semanticscholar   +1 more source