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Published in 2017 at "Pediatric Emergency Care"
DOI: 10.1097/pec.0000000000001029
Abstract: To the Editors: L -2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive genetic disease. Clinically, it shows progressive psychomotor developmental delay and cerebral symptoms. Macrocephaly is a finding that must alert the clinicians to the…
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Keywords:
aciduria;
case presented;
aciduria case;
acute bacterial ... See more keywords