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Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11.
Pediatr Neurol. 2016.
PMID: 26995068
Review.
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Coulter-Mackie MB, Tiebout S, van Karnebeek C, Stockler S.
Coulter-Mackie MB, et al.
Mol Genet Metab. 2014 Apr;111(4):462-6. doi: 10.1016/j.ymgme.2014.02.010. Epub 2014 Feb 24.
Mol Genet Metab. 2014.
PMID: 24613284
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