Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
Author:
Publisher
BMJ
Subject
Pediatrics, Perinatology, and Child Health
Cited by 48 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1;Chemico-Biological Interactions;2024-05
2. Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research;Annals of the Child Neurology Society;2023-03
3. Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures;Brain Sciences;2021-12-31
4. Comprehensive Analysis of Aldehyde Dehydrogenases (ALDHs) and Its Significant Role in Hepatocellular Carcinoma;Biochemical Genetics;2021-12-20
5. Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study;European Journal of Paediatric Neurology;2021-07
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