Aldehyde Dehydrogenase

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

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

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

Aldehyde Dehydrogenase

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Curtis R. Coughlin

• Jan 1, 2021 • 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

2-Aminoadipic Acid

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

Clara D. M. Van Karnebeek

• Nov 1, 2012 • 1 min read