Browsing by Author Mudd, S.H. (S. Harvey)
Showing results 1 to 4 of 4
| Issue Date | Title | Type | Author(s) |
| 2001 | Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity | Articulo | Perez-Mato, I. (Isabel) ; Sanchez-del-Pino, M.M. (Manuel M.); Chamberlin, M.E. (Margaret E.); Mudd, S.H. (S. Harvey); Mato, J.M. (José María); Corrales, F.J. (Fernando José) |
| 2010 | Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia | Articulo | Fernandez-Irigoyen, J. (Joaquín); Santamaria, E. (Enrique); Chien, Y-H (Yin-Hsiu); Hwu, W.L. (Wuh-Liang); Korman, S.H. (Stanley H.); Faghfoury, H. (Hanna); Schulze, A. (Andreas); Hoganson, G.E. (George E.); Stabler, S.P. (Sally P.); Allen, R.H. (Robert H.); Wagner, C. (Conrad); Mudd, S.H. (S. Harvey); Corrales, F.J. (Fernando José) |
| 2008 | Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme | Articulo | Couce, M.L. (ML); Boveda, M.D. (MD); Castiñeiras, D.E. (DE); Corrales, F.J. (Fernando José); Mora, M.I. (María I.); Fraga, J.M. (J. M.); Mudd, S.H. (S. Harvey) |
| 2002 | Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation | Articulo | Kim, S.Z. (S. Z.); Santamaria, E. (Enrique); Jeong, T.E. (T. E.); Levy, H.L. (H.L.); Mato, J.M. (José María); Corrales, F.J. (Fernando José); Mudd, S.H. (S. Harvey) |
