Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes-Reference-Cited by-同舟云学术

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Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes

Published:2022-06 Issue: Volume:31 Page:100853
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Tseng L.A.,Teela L.,Janssen M.C.,Bok L.A.,Willemsen M.A.A.P.,Neuteboom R.F.,Haverman L.,Gospe S.M.,Coughlin C.R.,van Karnebeek C.D.M.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference35 articles.

1. Mutations in antiquitin in individuals with pyridoxine-dependent seizures;Mills;Nat. Med.,2006

2. The B6 database: a tool for the description and classification of vitamin B6-dependent enzymatic activities and of the corresponding protein families;Percudani;BMC Bioinformatics,2009

3. Pyridoxine-dependent epilepsy;Gospe,1993

4. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome;Coughlin;Mol. Genet. Metab.,2015

5. Pyridoxine-dependent epilepsy: an expanding clinical Spectrum;van Karnebeek;Pediatr. Neurol.,2016

Cited by 5 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. Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review;Epilepsy Research;2024-05

2. Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines;JIMD Reports;2024-04-03

3. Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research;Annals of the Child Neurology Society;2023-03

4. The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study;Epilepsy Research;2023-02

5. Genetic heterogeneity in corpus callosum agenesis;Frontiers in Genetics;2022-09-30

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