Preschool

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

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

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Marisa W. Friederich

• Sep 1, 2020 • 1 min read

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

Nicholas v. Stence

• May 1, 2019 • 1 min read

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

Saskia B. Wortmann

• May 1, 2017 • 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

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