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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: baumer fm. 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.
Language Dysfunction in Pediatric Epilepsy.
Baumer FM, Cardon AL, Porter BE. Baumer FM, et al. 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.
34 results