Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant.
Ramaswamy GaneshNatarajan SureshB VasukiKarthik NarayananPublished in: Indian journal of pediatrics (2020)