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Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
Raval DB, Merideth M, Sloan JL, Braverman NE, Conway RL, Manoli I, Venditti CP. Raval DB, et al. Among authors: conway rl. J Inherit Metab Dis. 2015 Sep;38(5):839-46. doi: 10.1007/s10545-014-9802-8. Epub 2015 Jan 8. J Inherit Metab Dis. 2015. PMID: 25567501 Free PMC article. Review.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. Mirzaa G, et al. Among authors: conway rl. JCI Insight. 2016 Jun 16;1(9):e87623. doi: 10.1172/jci.insight.87623. JCI Insight. 2016. PMID: 27631024 Free PMC article.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, Berry SA. Longo N, et al. Among authors: conway rl. Mol Genet Metab. 2021 Jan;132(1):19-26. doi: 10.1016/j.ymgme.2020.12.002. Epub 2020 Dec 23. Mol Genet Metab. 2021. PMID: 33388234 Free PMC article.
25 results