Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

被引:0
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作者
Jinfu Zhou
Guilin Li
Lin Deng
Peiran Zhao
Yinglin Zeng
Xiaolong Qiu
Jinying Luo
Liangpu Xu
机构
[1] Fujian Medical University,Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics
[2] Fujian Medical University,Department of Preventive Medicine, School of Public Health
[3] Fujian Medical University,Obstetrics and Gynecology Department, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics
关键词
Acylcarnitine profile; GCDH; Glutaric acidemia type 1; Southeastern China; Variant;
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