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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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Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis,Expand
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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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Initial report from the Hunter Outcome Survey
Purpose: Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and inExpand
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The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
A TP53 germline mutation, R337H, has been previously described in children from southern Brazil with adrenocortical tumours but no documented familial history of other cancers. Here, we have screenedExpand
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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads toExpand
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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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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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Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.
PAX2 mutations cause renal-coloboma syndrome (RCS), a rare multi-system developmental abnormality involving optic nerve colobomas and renal abnormalities. End-stage renal failure is common in RCS,Expand
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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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