Associated Papers
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.
Bottino M et al.
Molecular Genetics and Metabolism Reports, 2025
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.
Yu X et al.
Frontiers in Neurology, 2025
40979201 (PubMed )
Supplement: Table_1.xlsx › HGMD______
Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report.
Chauhan A et al.
Pediatric Neurology, 2023
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
Akiyama T et al.
Pediatric Neurology, 2020
A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations.
Dowa Y et al.
Oxford Medical Case Reports, 2020
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