Fatal Outcome

Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt

Lauren Beard

• Jan 1, 2017 • 1 min read

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker

• Feb 1, 2014 • 1 min read

Acyl-CoA Dehydrogenase

Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

Curtis R. Coughlin

• Dec 1, 2010 • 1 min read

Acyl-CoA Dehydrogenase

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry

Can Ficicioglu

• Mar 1, 2010 • 1 min read