David M. Mirsky

Acidosis

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

Marisa W. Friederich
•
Read more
Alpha Aminoadipic Semialdehyde

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

Curtis R. Coughlin
•
Read more