An overview of intra-articular therapy for mucopolysaccharidosis VI.
نویسندگان
چکیده
Dyane Auclaira,∗, David Ketteridgeb, Stephanie Oatesb, John J. Hopwooda and Sharon Byersc Lysosomal Diseases Research Unit, SA Pathology (at Women’s and Children’s Hospital), North Adelaide, SA, Australia Metabolic unit, SA Pathology (at Women’s and Children’s Hospital), North Adelaide, SA, Australia Matrix Biology Unit, SA Pathology (at Women’s and Children’s Hospital), North Adelaide, SA, Australia
منابع مشابه
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 management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controll...
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Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Method...
متن کاملPromoting Bone Health in MPS VI (Maroteaux-Lamy syndrome): Framing New Therapies, Part 1.
In October 2008, more than 80 clinicians and scientists gathered at the Children’s Hospital Oakland Research Institute in Oakland, California, at a two day meeting of experts entitled “Promoting Bone Health in MPS VI: Framing New Therapies”. The meeting was jointly sponsored by Children’s Hospital and Research Center Oakland and the Department of Pediatrics, University of Padova, Italy. The mee...
متن کاملMutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues an...
متن کاملAnti-TNF-Alpha Therapy Enhances the Effects of Enzyme Replacement Therapy in Rats with Mucopolysaccharidosis Type VI
BACKGROUND Although enzyme replacement therapy (ERT) is available for several lysosomal storage disorders, the benefit of this treatment to the skeletal system is very limited. Our previous work has shown the importance of the Toll-like receptor 4/TNF-alpha inflammatory pathway in the skeletal pathology of the mucopolysaccharidoses (MPS), and we therefore undertook a study to examine the additi...
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ورودعنوان ژورنال:
- Journal of pediatric rehabilitation medicine
دوره 3 1 شماره
صفحات -
تاریخ انتشار 2010