A neonate presenting with lactic acidosis, hypotonia, encephalopathy and tubulopathy: Possible RRM2Brelated encephalomyopathic mitochondrial DNA depletion syndrome

T. Suriapperuma, C. Weeraratne, J. Wanigasinghe
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新生儿表现为乳酸性酸中毒、肌张力低下、脑病和小管病:可能与rrm2b相关的脑肌病线粒体DNA缺失综合征
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