Article
Combined Hurler and Sanfilippo syndrome in a sibling pair.
Molecular genetics and metabolism - 1 Jun 2011
Sun Angela, Hopwood John J, Thompson Jerry, Cederbaum Stephen D
Abstract excerpt
The mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by defects in the enzymes involved in the degradation of glycosaminoglycans. Hurler syndrome (MPS I) and Sanfilippo syndrome (MPS III) are among the more common diseases in the group, each occurring with an incidence of approximately 1 in 100,000. We present a case of siblings, born of a consanguineous union, affected with both MPS I and MPS...
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