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Prevalence of lysosomal storage disorders.
There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period, and as a group, they are relatively common and represent an important health problem in Australia. Expand
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
The IDS sequence has strong sequence homology with other sulfatases (such as sea urchin arylsulfatase, human arylesulfatases A, B, and C, and human glucosamine 6-sulf atase), suggesting that the sulfatase comprise an evolutionarily related family of genes that arose by gene duplication and divergent evolution. Expand
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.
Cord blood from unrelated donors appears to be an excellent source of stem cells for transplantation in patients with Hurler's syndrome and sustained engraftment can be achieved without total-body irradiation. Expand
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
A spontaneous mouse mutant is described that replicates many of the features found in MPS III A in children, and provides an excellent model for evaluating pathogenic mechanisms of disease and for testing treatment strategies, including enzyme or cell replacement and gene therapy. Expand
Structure of a human lysosomal sulfatase.
The structure of N-acetylgalactosamine-4-sulfatase reveals that residues conserved amongst the sulfatase family are involved in stabilizing the calcium ion and the sulfate ester in the active site, which suggests an archetypal fold for the family of sulfatases. Expand
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
OBJECTIVES To evaluate the safety and efficacy of weekly treatment with human recombinant N-acetylgalactosamine 4-sulfatase (rhASB) in humans with mucopolysaccharidosis type VI (MPS VI). STUDYExpand
Mutational analysis of 105 mucopolysaccharidosis type VI patients
This mutation analysis has identified a clear correlation between genotype and urinary GAG that can be used to predict clinical outcome and highlighted the genetic heterogeneity of the disorder. Expand
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Molecular characterization of Mps‐IIIA patients has revealed a high incidence of particular mutations of different geographical origins, which will be beneficial for the molecular diagnosis of MPS‐IIIB patients. Expand
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
The results suggest that early treatment of CNS lesions by AAV-mediated intraventricular injection of both SGSH and SUMF1 genes may represent a feasible therapy for MPS-IIIA. Expand
Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker.
The lysosome-associated membrane protein LAMP-1 may be a useful marker in newborn screening for LSDs and a sensitive method for the quantification of this protein with a time-resolved fluorescence immunoassay is developed. Expand