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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.
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
Numata S, Koda Y, Ihara K, Sawada T, Okano Y, Matsuura T, Endo F, Yoo HW, Arranz JA, Rubio V, Wermuth B, Ah Mew N, Tuchman M, Pinner JR, Kirk EP, Yoshino M. Numata S, et al. Among authors: ah mew n. J Hum Genet. 2010 Jan;55(1):18-22. doi: 10.1038/jhg.2009.113. Epub 2009 Nov 6. J Hum Genet. 2010. PMID: 19893582
Measuring in vivo ureagenesis with stable isotopes.
Yudkoff M, Ah Mew N, Daikhin Y, Horyn O, Nissim I, Nissim I, Payan I, Tuchman M. Yudkoff M, et al. Among authors: ah mew n. Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S37-41. doi: 10.1016/j.ymgme.2010.02.017. Epub 2010 Feb 26. Mol Genet Metab. 2010. PMID: 20338795 Free PMC article.
49 results