Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.

Abstract excerpt

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive genetic disorder that results in a wide range of clinical symptoms from mild somatic complications and a normal lifespan to severe central nervous system involvement and a significantly shortened lifespan. An extensive review of the literature was performed to pool data from studies that have identified mutations in patients with mucopolysaccharidosis...

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