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An Integrated Multi-Omics Approach Allowed Ultra-Rapid Diagnosis of a Deep Intronic Pathogenic Variant in PDHX and Precision Treatment in a Neonate Critically Ill with Lactic Acidosis

MITOCHONDRION(2024)

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关键词
Pyruvate dehydrogenase,Proteomics,Whole genome sequencing,Dichloroacetate,Lactic acidosis,Hereditary orotic aciduria
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