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Page 1
Sialic acid metabolism in sialuria fibroblasts.
Seppala R, Tietze F, Krasnewich D, Weiss P, Ashwell G, Barsh G, Thomas GH, Packman S, Gahl WA. Seppala R, et al. J Biol Chem. 1991 Apr 25;266(12):7456-61. J Biol Chem. 1991. PMID: 2019577 Free article.
Identification of the metabolic defect in sialuria.
Weiss P, Tietze F, Gahl WA, Seppala R, Ashwell G. Weiss P, et al. Among authors: seppala r. J Biol Chem. 1989 Oct 25;264(30):17635-6. J Biol Chem. 1989. PMID: 2808337 Free article.
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA. Leroy JG, et al. Among authors: seppala r. Am J Hum Genet. 2001 Jun;68(6):1419-27. doi: 10.1086/320598. Epub 2001 Apr 18. Am J Hum Genet. 2001. PMID: 11326336 Free PMC article.
Clinical course and biochemistry of sialuria.
Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. Enns GM, et al. Among authors: seppala r. J Inherit Metab Dis. 2001 Jun;24(3):328-36. doi: 10.1023/a:1010588115479. J Inherit Metab Dis. 2001. PMID: 11486897
27 results