Humans

2-Aminoadipic Acid

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

Youssef Khalil

• Jan 1, 2025 • 1 min read

Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists

Miranda L. G. Hallquist

• Oct 1, 2023 • 1 min read

Amino Acid Metabolism

Is it time to start to consider treating the liver in glutaric aciduria type 1?

Sander Houten

• Jul 1, 2023 • 1 min read

Aldehyde Dehydrogenase

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Curtis R. Coughlin

• Dec 1, 2022 • 1 min read

Aldehyde Dehydrogenase

Clinical Reasoning: Pediatric Seizures of Unknown Cause

Laura A. Tseng

• Jun 1, 2022 • 1 min read

Activities of Daily Living

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Laura A. Tseng

• Apr 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

Application of a framework to guide genetic testing communication across clinical indications

Miranda L. G. Hallquist

• Apr 1, 2021 • 1 min read

Chromosome Breakpoints

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

Yulia Mostovoy

• Feb 1, 2021 • 1 min read