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Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Chien YH, et al. Among authors: wagner c. Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Orphanet J Rare Dis. 2015. PMID: 26289392 Free PMC article. Review.
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Fernández-Irigoyen J, Santamaría E, Chien YH, Hwu WL, Korman SH, Faghfoury H, Schulze A, Hoganson GE, Stabler SP, Allen RH, Wagner C, Mudd SH, Corrales FJ. Fernández-Irigoyen J, et al. Among authors: wagner c. Mol Genet Metab. 2010 Oct-Nov;101(2-3):172-7. doi: 10.1016/j.ymgme.2010.07.009. Epub 2010 Jul 15. Mol Genet Metab. 2010. PMID: 20675163 Free article.
In memoriam: S. Harvey Mudd.
Blom HJ, Stabler S, Wagner C. Blom HJ, et al. Among authors: wagner c. Am J Med Genet A. 2015 May;167A(5):994-6. doi: 10.1002/ajmg.a.36904. Epub 2015 Mar 26. Am J Med Genet A. 2015. PMID: 25820490 No abstract available.
Glycine N -methyltransferase deficiency: a new patient with a novel mutation.
Augoustides-Savvopoulou P, Luka Z, Karyda S, Stabler SP, Allen RH, Patsiaoura K, Wagner C, Mudd SH. Augoustides-Savvopoulou P, et al. Among authors: wagner c. J Inherit Metab Dis. 2003;26(8):745-59. doi: 10.1023/B:BOLI.0000009978.17777.33. J Inherit Metab Dis. 2003. PMID: 14739680
3,147 results