Michael A. Swanson

6-Hydroxy-Pipecolate

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

Michael F. Wempe

• May 1, 2019 • 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

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

Curtis R. Coughlin

• Jan 1, 2017 • 1 min read

Child Development

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Kendra J. Bjoraker

• Mar 1, 2016 • 1 min read

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Michael A. Swanson

• Oct 1, 2015 • 1 min read

Alpers Syndrome

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R. Coughlin

• Aug 1, 2015 • 1 min read

3-Hydroxyacyl CoA Dehydrogenases

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Kathryn C. Chatfield

• Mar 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