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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. Coughlin CR 2nd, et al. Among authors: hyland k. J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22. J Inherit Metab Dis. 2019. PMID: 30043187 Free PMC article. Review.
Partial Pyridoxine Responsiveness in PNPO Deficiency.
Pearl PL, Hyland K, Chiles J, McGavin CL, Yu Y, Taylor D. Pearl PL, et al. Among authors: hyland k. JIMD Rep. 2013;9:139-142. doi: 10.1007/8904_2012_194. Epub 2012 Nov 7. JIMD Rep. 2013. PMID: 23430561 Free PMC article.
Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers.
Smith N, Longo N, Levert K, Hyland K, Blau N. Smith N, et al. Among authors: hyland k. Mol Genet Metab Rep. 2019 Aug 12;21:100500. doi: 10.1016/j.ymgmr.2019.100500. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31453106 Free PMC article.
309 results