Infant

2-Aminoadipic Acid

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency

Youssef Khalil

• Jan 1, 2025 • 1 min read

Aldehyde Dehydrogenase

Clinical Reasoning: Pediatric Seizures of Unknown Cause

Laura A. Tseng

• Jun 1, 2022 • 1 min read

Aldehyde Dehydrogenase

A case for newborn screening for pyridoxine-dependent epilepsy

Curtis R. Coughlin

• Feb 1, 2022 • 1 min read

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study

M. Strijker

• Jul 1, 2021 • 1 min read

Amino Acid Metabolism

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Laurie Bernstein

• Oct 1, 2020 • 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

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