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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: ah mew n. 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.
N-acetylglutamate synthase: structure, function and defects.
Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M. Caldovic L, et al. Among authors: ah mew n. Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S13-9. doi: 10.1016/j.ymgme.2010.02.018. Epub 2010 Feb 26. Mol Genet Metab. 2010. PMID: 20303810 Free PMC article. Review.
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M. Ah Mew N, et al. Transl Sci Rare Dis. 2018 Dec 20;3(3-4):157-170. doi: 10.3233/TRD-180031. Transl Sci Rare Dis. 2018. PMID: 30613471 Free PMC article.
49 results