Female

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

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

David R. Weber

• Mar 1, 2016 • 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

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

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

Cerebral Cortex

Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency

Nicholas v. Stence

• Jul 1, 2013 • 1 min read

2-Aminoadipic Acid

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

Clara D. M. Van Karnebeek

• Nov 1, 2012 • 1 min read

Amino Acid Substitution

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Curtis R. Coughlin

• Jul 1, 2010 • 1 min read

Acyl-CoA Dehydrogenase

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry

Can Ficicioglu

• Mar 1, 2010 • 1 min read