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Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review
Published 2025-01-01“…Junyou Su,1,* Lingdong Zeng,2,* Hongfei Chen,1 Junru Tong,1 Yan Chen,1 Lingling Huang,1 Li Deng,1 Yan Huang1 1Department of Obstetrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530007, People’s Republic of China; 2Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530007, People’s Republic of China*These authors contributed equally to this workCorrespondence: Li Deng; Yan Huang, Email dengli@gxmu.edu.cn; huangyanHY2020@163.comBackground: COX20-related mitochondrial complex IV deficiency is a rare autosomal recessive metabolic disorder that arises from biallelic loss-of-function mutations. …”
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Rapid Identification of the Chemical Components of Ilex rotunda Thunb Using UPLC-Q-TOF-MS/MS
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