Article
Clinical variability of type II sialidosis by C808T mutation.
American journal of medical genetics. Part A - 1 Feb 2003
Rodríguez Criado G, Pshezhetsky A V, Rodríguez Becerra A, Gómez de Terreros I
Abstract excerpt
Sialidosis (McKusick 256550) is an autosomal recessive disorder resulting from mutations in the NEU gene, located in 6p21.3, which leads to deficiency of alpha-N-acetyl neuraminidase (sialidase) activity, causing an accumulation of its substrates, oligosaccharides, in the lysosomes of various organs and tissues and an increased presence in urine and other organic fluids. We present a clinical report of three...
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