Newborn

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

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

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

Cerebral Cortex

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

Nicholas v. Stence

• Jul 1, 2013 • 1 min read

Acyl-CoA Dehydrogenase

Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

Curtis R. Coughlin

• Dec 1, 2010 • 1 min read

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

Matthew G. Sampson

• Oct 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