Article
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.
Molecular genetics and metabolism - 1 Jun 2004
Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk O S
Abstract excerpt
Four members of an extended consanguineous Bedouin family presented with different phenotypic variants of an autosomal recessive lysosomal free sialic acid storage disease. One affected individual had congenital ascites followed by rapid clinical deterioration and death, a presentation concordant with the clinical course of infantile free sialic acid storage disorder. His three first cousins had a more slowly...
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