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首页> Orphanet journal of rare diseases> Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.

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作者： Yiming,Lin ^[1] ; Wenjun,Wang ^[2] ; Chunmei,Lin ^[1] ; Zhenzhu,Zheng ^[1] ; Qingliu,Fu ^[1] ; Weilin,Peng ^[3] ; Dongmei,Chen ^[4]

作者单位： Center of Neonatal Disease Screening, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China. ^[1] Hangzhou Biosan Clinical Laboratory, Hangzhou, 310007, Zhejiang Province, China. ^[2] Center of Neonatal Disease Screening, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China. wellpeng@163.com. ^[3] Department of Neonatology, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China. chendm9090@163.com. ^[4]

关键词 GCDH gene Glutaric acidemia type 1 free carnitine newborn screening primary carnitine deficiency

主题词氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors);脑疾病, 代谢性(Brain Diseases, Metabolic);中国(China);戊二酰-CoA脱氢酶(Glutaryl-CoA Dehydrogenase);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);新生儿筛查(Neonatal Screening)

DOI 10.1186/s13023-021-01964-5

PMID 34344405

发布时间 2021-10-06

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Orphanet journal of rare diseases

Orphanet journal of rare diseases

2021年16卷1期

339页

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