Mutation

Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish

Nayeli G. Reyes-Nava

• Apr 1, 2020 • 1 min read

2-Aminoadipic Acid

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Curtis R. Coughlin

• Mar 1, 2019 • 1 min read

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Saskia B. Wortmann

• May 1, 2017 • 1 min read

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

Marisa W. Friederich

• Feb 1, 2017 • 1 min read

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 Coenzyme A

Clinical and biochemical characterization of four patients with mutations in ECHS1

Sacha Ferdinandusse

• Jun 1, 2015 • 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

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

Hung-Chun Yu

• Sep 1, 2013 • 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