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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.
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.
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.
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 and…
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
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:…
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.
Serum ferritin underestimates liver iron concentration in transfusion independent thalassemia patients as compared to regularly transfused thalassemia and sickle cell patients
- Z. Pakbaz, R. Fischer, E. Fung, Peter Nielsen, P. Harmatz, E. Vichinsky
- MedicinePediatric blood & cancer
- 1 September 2007
Serum ferritin (SF) and liver iron concentration (LIC), as measured by SQUID biosusceptometry, were assessed in a convenience sample of transfusion independent thalassemia patients to investigate the severity of iron overload and the relationship between SF and LIC in nTx‐Thal compared to SCD and Tx‐ Thal.
Oxidative stress and inflammation in iron‐overloaded patients with β‐thalassaemia or sickle cell disease
Thalassaemia patients have increased MDA and circulating NTBI relative to SCD patients and lower levels of some cytokines and γ‐tocopherol, which supports the hypothesis that the biology of SCD may show increased inflammation and increased levels of protective antioxidants compared with thalASSaemia.