Open AccessA neonate presenting with lactic acidosis, hypotonia, encephalopathy and tubulopathy: Possible RRM2Brelated encephalomyopathic mitochondrial DNA depletion syndrome
Author(s) -
Tharindi Suriapperuma,
Chathurika Thisarani Weeraratne,
Jithangi Wanigasinghe
Publication year - 2022
Publication title -
sri lanka journal of perinatal medicine
Language(s) - English
Resource type - Journals
ISSN - 2719-2393
DOI - 10.4038/sljpm.v3i1.39
Subject(s) - hypotonia , medicine , sri lanka , perinatal medicine , tubulopathy , encephalopathy , pediatrics , neonatology , lactic acidosis , intensive care medicine , family medicine , obstetrics , pregnancy , kidney disease , south asia , biology , ethnology , genetics , history