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Article

Varied mechanisms underlie the free sialic acid storage disorders.

The Journal of biological chemistry - 14 Jan 2005

Wreden Christopher C, Wlizla Marcin, Reimer Richard J

Abstract excerpt

Salla disease and infantile sialic acid storage disorder are autosomal recessive neurodegenerative diseases characterized by loss of a lysosomal sialic acid transport activity and the resultant accumulation of free sialic acid in lysosomes. Genetic analysis of these diseases has identified several unique mutations in a single gene encoding a protein designated sialin (Verheijen, F. W., Verbeek, E., Aula, N.,...

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PMID: 15516337
DOI: 10.1074/jbc.M411295200

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Varied mechanisms underlie the free sialic acid storage disorders.PMID 15516337Read ↗

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Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.Semantic proximity Read ↗

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Novel form of intermediate salla disease: clinical and neuroimaging features.Semantic proximity Read ↗

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