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

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

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.

Affiliation

Wen P-; Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital, Shenzhen, Guangdong 518026, PR China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 29(6): 642-7, 2012 Dec.

Article in Zh | MEDLINE | ID: mdl-23225040

Subject(s)

Amino Acid Metabolism, Inborn Errors/diagnosis; Amino Acid Metabolism, Inborn Errors/genetics; Brain Diseases, Metabolic/diagnosis; Brain Diseases, Metabolic/genetics; Glutaryl-CoA Dehydrogenase/genetics; Mutation; Amino Acid Metabolism, Inborn Errors/metabolism; Amino Acid Sequence; Base Sequence; Brain Diseases, Metabolic/metabolism; Glutaryl-CoA Dehydrogenase/deficiency; Glutaryl-CoA Dehydrogenase/metabolism; Humans; Infant; Male; Molecular Sequence Data; Sequence Alignment

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases, Metabolic / Glutaryl-CoA Dehydrogenase / Amino Acid Metabolism, Inborn Errors / Mutation Type of study: Prognostic_studies Limits: Humans / Infant / Male Language: Zh Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Year: 2012 Document type: Article

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