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

被引:0
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作者
Yiming Lin
Wenjun Wang
Chunmei Lin
Zhenzhu Zheng
Qingliu Fu
Weilin Peng
Dongmei Chen
机构
[1] Quanzhou Maternity and Children’s Hospital,Center of Neonatal Disease Screening
[2] Hangzhou Biosan Clinical Laboratory,Department of Neonatology
[3] Quanzhou Maternity and Children’s Hospital,undefined
来源
Orphanet Journal of Rare Diseases | / 16卷
关键词
Glutaric acidemia type 1; newborn screening; gene; free carnitine; primary carnitine deficiency;
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