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A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
This study supports the use of weekly infusions of idursulfase in the treatment of mucopolysaccharidosis II and exhibited significant improvement in the composite endpoint compared to placebo after one year.
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI, although ERT within the first few months of life may prevent valve involvement, a fact that emphasizes the importance of early diagnosis and treatment in MPS.
Initial report from the Hunter Outcome Survey
- J. E. Wraith, M. Beck, R. Giugliani, J. Clarke, Rick A. Martin, J. Muenzer
- MedicineGenetics in Medicine
- 1 July 2008
The Hunter Outcome Survey will be a valuable resource for enhancing the understanding of Hunter syndrome and will provide important information about the natural history of the disease and the role of enzyme replacement therapy in its treatment.
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey
The data suggest that the importance of renal disease as a cause of death in patients with Fabry disease is decreasing while the importance in the management of cardiac disease is increasing.
Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
A concise review of mucopolysaccharidosis II is provided for practitioners with the hope that such information will help identify affected boys earlier in the course of their disease.
Inborn Errors of Metabolism
The sensitivity of a screening procedure for inborn errors of metabolism (IEM) in 566 referred, high-risk patients and the simple inclusion of thin-layer chromatography of urinary oligosaccharides in the SP should allow the detection of at least one half of these cases, increasing its sensitivity by 14.1 percent and its efficiency by 4.6 percent.
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.
Multidisciplinary Management of Hunter Syndrome
The important management topics are discussed in this review, and the use of enzyme-replacement therapy with recombinant human iduronate-2-sulfatase as a specific treatment for Hunter syndrome is presented.
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.