Publications

Clinical Trials

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Nicholas Ah Mew

• Dec 1, 2018 • 1 min read

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Emmanuel Scalais

• Jun 1, 2017 • 1 min read

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Saskia B. Wortmann

• May 1, 2017 • 1 min read

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

Marisa W. Friederich

• Feb 1, 2017 • 1 min read

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin

• Jan 1, 2017 • 1 min read

Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt

Lauren Beard

• Jan 1, 2017 • 1 min read

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

Clara D. M. Van Karnebeek

• Jun 1, 2016 • 1 min read

Intellectual Disability

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

Hung-Chun Yu

• May 1, 2016 • 1 min read

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