Zobrazeno 1 - 10
of 139
pro vyhledávání: '"Mudd, S H"'
Autor:
Barić, I., Buist, N. R. M., Mudd, S. H., Vugrek, O., Allen, R. H., Wagner, C., Glenn, B., Schulze, A., Zeisel, S. H., Stabler, S., Pogribny, I.
This paper reports the third proven human case of deficient S-adenosylhomocysteine (AdoHcy) hydrolase activity. The patient is similar to the only two previously reported cases with this disorder in having severe myopathy, developmental delay, elevat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abba4845420685348070e7c18a7faf0b
https://www.bib.irb.hr/212699
https://www.bib.irb.hr/212699
Autor:
Augoustides Savvopoulou, P., Zs, Luka, Luka, Z., Karyda, S., Stabler, S. P., Allen, R. H., Patsiaoura, K., Wagner, C., Mudd, S. H.
We report studies of a Greek boy of gypsy origin that show that he has severe deficiency of glycine N -methyltransferase (GNMT) activity due to apparent homozygosity for a novel mutation in the gene encoding this enzyme that changes asparagine-140 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::bee828dcee41c5ac23b0c917fb157adf
https://zenodo.org/record/1236020
https://zenodo.org/record/1236020
Autor:
Pérez Mato, I., Manuel M. Sánchez del Pino, Chamberlin, M. E., Mudd, S. H., Mato, J. M., Corrales, F. J.
Publikováno v:
Dadun. Depósito Académico Digital de la Universidad de Navarra
instname
Scopus-Elsevier
instname
Scopus-Elsevier
Methionine adenosyltransferase (MAT) catalyzes the synthesis of S-adenosylmethionine (AdoMet), the main alkylating agent in living cells. Additionally, in the liver, MAT is also responsible for up to 50% of methionine catabolism. Humans with mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d67957f43f5114750251c294ca2e2b98
https://hdl.handle.net/10171/21526
https://hdl.handle.net/10171/21526
Autor:
Mudd, S H, Levy, H L, Tangerman, A, Boujet, C, Buist, N, Davidson-Mundt, A, Hudgins, L, Oyanagi, K, Nagao, M, Wilson, W G
New information has been obtained on 30 patients with isolated persistent hypermethioninemia, most of them previously unreported. Biopsies to confirm the presumptive diagnosis of partially deficient activity of ATP: L-methionine S-adenosyltransferase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b2fd2d17b260cd365da4f6282c777cb5
https://europepmc.org/articles/PMC1801505/
https://europepmc.org/articles/PMC1801505/
Akademický článek
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Akademický článek
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Publikováno v:
Journal of Biological Chemistry; April 2001, Vol. 276 Issue: 17 p13803-9, 7p
Autor:
Blom, H. J., Davidson, A. J., Finkelstein, J. D., Luder, A. S., Bernardini, I., Martin, J. J., Tangerman, A., Trijbels, J. M. F., Mudd, S. H., Goodman, S. I., Gahl, W. A.
Publikováno v:
Journal of Inherited Metabolic Disease; March 1992, Vol. 15 Issue: 2 p188-197, 10p
Autor:
Dillon, M. J., England, J. M., Gompertz, D., Goodey, Patricia A., Grant, D. B., Hussein, H. A-A., Linnell, J. C., Matthews, D. M., Mudd, S. H., Newns, G. H., Seakins, J. W. T., Uhlendorf, B. W., Wise, Irene J.
Publikováno v:
Clinical Science; July 1974, Vol. 47 Issue: 1 p43-61, 19p
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America; April 1966, Vol. 55 Issue: 4 p865-872, 8p