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References

These sources were used to develop the Genetics Home Reference condition summary on sialic acid storage disease.

Aula N, Kopra O, Jalanko A, Peltonen L. Sialin expression in the CNS implicates extralysosomal function in neurons. Neurobiol Dis. 2004 Mar;15(2):251-61. PubMed citation
Eskelinen EL, Tanaka Y, Saftig P. At the acidic edge: emerging functions for lysosomal membrane proteins. Trends Cell Biol. 2003 Mar;13(3):137-45. Review. PubMed citation
Gene Review: Free Sialic Acid Storage Disorders
Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M. Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet. 1999 Feb 19;82(5):385-91. Review. PubMed citation
Mach L. Biosynthesis of lysosomal proteinases in health and disease. Biol Chem. 2002 May;383(5):751-6. Review. PubMed citation
Morin P, Sagné C, Gasnier B. Functional characterization of wild-type and mutant human sialin. EMBO J. 2004 Nov 24;23(23):4560-70. Epub 2004 Oct 28. PubMed citation
Suwannarat P. Disorders of free sialic acid. Mol Genet Metab. 2005 Jun;85(2):85-7. Review. PubMed citation

Reviewed: February 2008

Published: May 20, 2013