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A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Purpose: To evaluate the safety and efficacy of recombinant human iduronate-2-sulfatase (idursulfase) in the treatment of mucopolysaccharidosis II.Methods: Ninety-six mucopolysaccharidosis IIExpand
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Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressiveExpand
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Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatanExpand
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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
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Management Guidelines for Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis andExpand
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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
Purpose: This study evaluated the safety and effectiveness of long-term enzyme replacement therapy with idursulfase (recombinant human iduronate-2-sulfatase) in patients with Hunter syndrome.Methods:Expand
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Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2
Objective. Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (ASB). This enzymeExpand
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Multidisciplinary Management of Hunter Syndrome
Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in theExpand
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Mutational analysis of 105 mucopolysaccharidosis type VI patients
Mucopolysaccharidosis type VI (MPS VI; Maroteaux‐Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N‐acetylgalactosamine‐4‐sulfatase (arylsulfatase B, ARSB) gene. ARSB is aExpand
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International Guidelines for the Management and Treatment of Morquio A Syndrome
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non‐skeletal manifestations including respiratoryExpand
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