Article
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
1 Jan 2014
Abstract excerpt
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis....
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