Articles with "aciduria case" as a keyword



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An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis.

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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… read more here.

Keywords: aciduria; case presented; aciduria case; acute bacterial ... See more keywords