Title : [Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].

Pub. Date : 2014 Jun

PMID : 25190157






1 Functional Relationships(s)
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1 Both the radiological findings and increased urine GAG are important clues to diagnose MPS VI.Large decrease or absence of ARSB activity is diagnostic for MPS VI.Four novel mutations of ARSB gene were identified. Glycosaminoglycans arylsulfatase B Homo sapiens