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References

These sources were used to develop the Genetics Home Reference condition summary on sialuria.

Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. Clinical course and biochemistry of sialuria. J Inherit Metab Dis. 2001 Jun;24(3):328-36. PubMed citation
Gene Review: Sialuria
Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA. Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6):1419-27. Epub 2001 Apr 18. PubMed citation
Seppala R, Lehto VP, Gahl WA. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Am J Hum Genet. 1999 Jun;64(6):1563-9. PubMed citation
Strehle EM. Sialic acid storage disease and related disorders. Genet Test. 2003 Summer;7(2):113-21. Review. PubMed citation

Reviewed: December 2008

Published: May 13, 2013