Missense

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin

• Jan 1, 2017 • 1 min read

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Michael A. Swanson

• Oct 1, 2015 • 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

Amino Acid Substitution

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Curtis R. Coughlin

• Jul 1, 2010 • 1 min read