Evaluation of galsulfase for the treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
نویسندگان
چکیده
منابع مشابه
DRUG PROFILE Galsulfase: enzyme-replacement therapy for mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome)
10.1586/14750708.3.1.9 © 200 Since enzyme-replacement therapy has been successfully introduced for patients with Gaucher disease, Fabry disease and mucopolysaccharidosis Type I, the principle of this treatment has also been taken into consideration for individuals who are affected by mucopolysaccharidosis Type VI (Maroteaux–Lamy disease), a rare lysosomal storage disorder with multiple organ an...
متن کاملA systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase
INTRODUCTION Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder, characterized primarily by skeletal dysplasia and joint contracture. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B), for which a recombinant formulation (galsulfase) is available as replacement therapy. OBJECTIVE To evaluate th...
متن کاملNatural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetylgalactosamine-4-sulfatase activity. A cross-sectional Survey Study in individuals (n = 121) affected with MPS VI was conducted between 2001 and 2002 to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of disea...
متن کاملClinical utility of endurance measures for evaluation of treatment in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Increased functional capacity of major organ systems improves the quality of life and contributes to reductions in the morbidity associated with chronic debilitating diseases. Routine endurance tests can be used to gauge the progression of disease and the impact of therapeutic modalities in disorders with multiple organ system involvement such as with Mucopolysaccharidosis type VI (MPS VI). MPS...
متن کاملSensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)
Maroteaux-Lamy disease, also known as mucopolysaccharidosis (MPS) VI, is an MPS disorder caused by mutations in the ARSB gene encoding for the lysosomal enzyme arysulfatase B (ARSB). Deficient ARSB activity leads to lysosomal accumulation of dermatan sulfate in a wide range of tissues and organs. There are various animal models of MPS VI that have been well characterized from a biochemical and ...
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ژورنال
عنوان ژورنال: Expert Opinion on Orphan Drugs
سال: 2014
ISSN: 2167-8707
DOI: 10.1517/21678707.2014.885833