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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.
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
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.
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD). Posset R, et al. Sci Rep. 2020 Jul 20;10(1):11948. doi: 10.1038/s41598-020-67496-3. Sci Rep. 2020. PMID: 32686765 Free PMC article.
50 results