Brain Diseases

Amino Acid Metabolism

Is it time to start to consider treating the liver in glutaric aciduria type 1?

Sander Houten

• Jul 1, 2023 • 1 min read

Amino Acid Metabolism

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Laurie Bernstein

• Oct 1, 2020 • 1 min read

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Marisa W. Friederich

• Sep 1, 2020 • 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