Retrospective Studies

Activities of Daily Living

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Laura A. Tseng

• Apr 1, 2022 • 1 min read

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

Nicholas v. Stence

• May 1, 2019 • 1 min read

Low bone mineral density is a common finding in patients with homocystinuria

David R. Weber

• Mar 1, 2016 • 1 min read

Alpha Aminoadipic Semialdehyde

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

Curtis R. Coughlin

• Jan 1, 2015 • 1 min read

Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children

Ralph J. DeBerardinis

• Dec 1, 2008 • 1 min read