Curtis R. Coughlin

22q11 Deletion Syndrome

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Wolfram Demaerel

• Sep 1, 2019 • 1 min read

6-Hydroxy-Pipecolate

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

Michael F. Wempe

• May 1, 2019 • 1 min read

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

Nicholas v. Stence

• May 1, 2019 • 1 min read

2-Aminoadipic Acid

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Curtis R. Coughlin

• Mar 1, 2019 • 1 min read

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Kelly E. Ormond

• Mar 1, 2019 • 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