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S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH. Baric I, et al. Among authors: vugrek o. Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9. doi: 10.1073/pnas.0400658101. Epub 2004 Mar 15. Proc Natl Acad Sci U S A. 2004. PMID: 15024124 Free PMC article.
S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy.
Barić I, Cuk M, Fumić K, Vugrek O, Allen RH, Glenn B, Maradin M, Pazanin L, Pogribny I, Rados M, Sarnavka V, Schulze A, Stabler S, Wagner C, Zeisel SH, Mudd SH. Barić I, et al. Among authors: vugrek o. J Inherit Metab Dis. 2005;28(6):885-902. doi: 10.1007/s10545-005-0192-9. J Inherit Metab Dis. 2005. PMID: 16435181 Free PMC article.
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.
Buist NR, Glenn B, Vugrek O, Wagner C, Stabler S, Allen RH, Pogribny I, Schulze A, Zeisel SH, Barić I, Mudd SH. Buist NR, et al. Among authors: vugrek o. J Inherit Metab Dis. 2006 Aug;29(4):538-45. doi: 10.1007/s10545-006-0240-0. Epub 2006 May 30. J Inherit Metab Dis. 2006. PMID: 16736098 Free PMC article.
S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues.
Beluzić R, Cuk M, Pavkov T, Barić I, Vugrek O. Beluzić R, et al. Among authors: vugrek o. Biochem Biophys Res Commun. 2008 Mar 28;368(1):30-6. doi: 10.1016/j.bbrc.2008.01.042. Epub 2008 Jan 22. Biochem Biophys Res Commun. 2008. PMID: 18211827
Two missense mutations in codons 89 (A>V) and 143 (Y>C) in the AdoHcyase gene were identified [N.R.M. Buist, B. Glenn, O. Vugrek, C. Wagner, S. Stabler, R.H. Allen, I. Pogribny, A. Schulze, S.H. ...Beluzic, M. Cuk, T. Pavkov, K. Fumic, I. Baric, S.H. Mudd, I. …
Two missense mutations in codons 89 (A>V) and 143 (Y>C) in the AdoHcyase gene were identified [N.R.M. Buist, B. Glenn, O. Vu …
40 results