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Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Bainbridge MN, et al. Among authors: porter be. Mol Genet Metab. 2017 Aug;121(4):314-319. doi: 10.1016/j.ymgme.2017.06.009. Epub 2017 Jun 24. Mol Genet Metab. 2017. PMID: 28673551 Free PMC article.
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Donti TR, et al. Among authors: porter be. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. doi: 10.1016/j.ymgmr.2016.07.007. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27504266 Free PMC article.
Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.
Yang QZ, Spelbrink EM, Nye KL, Hsu ER, Porter BE. Yang QZ, et al. Among authors: porter be. Child Neurol Open. 2020 Jun 8;7:2329048X20931361. doi: 10.1177/2329048X20931361. eCollection 2020 Jan-Dec. Child Neurol Open. 2020. PMID: 32551328 Free PMC article.
Language Dysfunction in Pediatric Epilepsy.
Baumer FM, Cardon AL, Porter BE. Baumer FM, et al. Among authors: porter be. J Pediatr. 2018 Mar;194:13-21. doi: 10.1016/j.jpeds.2017.10.031. Epub 2017 Dec 11. J Pediatr. 2018. PMID: 29241678 Free PMC article. Review. No abstract available.
Perineuronal net degradation in epilepsy.
Rankin-Gee EK, McRae PA, Baranov E, Rogers S, Wandrey L, Porter BE. Rankin-Gee EK, et al. Among authors: porter be. Epilepsia. 2015 Jul;56(7):1124-33. doi: 10.1111/epi.13026. Epub 2015 May 29. Epilepsia. 2015. PMID: 26032766 Free article.
118 results