Neonatal lactic acidosis explained by LARS2 defect.

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作者： Boel,De Paepe ^[1] ; Joél,Smet ^[2] ; Robert,Kopajtich ^[3] ; Holger,Prokisch ^[4] ; Rudy,Van Coster ^[2] ; Arnaud,Vanlander ^[2]

作者单位： Department of Child Neurology & Metabolism, Ghent University, Ghent, Belgium. boel.depaepe@ugent.be. ^[1] Department of Child Neurology & Metabolism, Ghent University, Ghent, Belgium. ^[2] Institute of Human Genetics, School of Medicine, Technische Universität München, 81675, Munich, Germany. ^[3] Institute of Neurogenomics, Helmholtz Zentrum München, 85764, Neuherberg, Germany. ^[4]

主题词婴儿, 新生(Infant, Newborn);人类(Humans);酸中毒, 乳酸性(Acidosis, Lactic);酸中毒(Acidosis);氨酰基tRNA合成酶类(Amino Acyl-tRNA Synthetases)

DOI 10.1038/s41390-022-02169-7

PMID 35750896

发布时间 2023-04-21

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