نتایج جستجو برای: maroteaux lamy syndrome
تعداد نتایج: 622119 فیلتر نتایج به سال:
Direct enzyme replacement therapy (ERT) has been introduced as a means to treat a number of rare, complex genetic conditions associated with lysosomal dysfunction. Gaucher disease was the first for which this therapy was applied and remains the prototypical example. Although ERT using recombinant lysosomal enzymes has been shown to be effective in altering the clinical course of Gaucher disease...
Nonsense mutations are quite prevalent in inherited diseases. Readthrough drugs could provide a therapeutic option for any disease caused by this type of mutation. Geneticin (G418) and gentamicin were among the first to be described. Novel compounds have been generated, but only a few have shown improved results. PTC124 is the only compound to have reached clinical trials. Here we first investi...
Staining with Alcian blue in various concentrations of magnesium chloride (alcianophilia) has been found to be a useful supplement to metachromatic staining to detect increased cellular concentrations of glycosaminoglycans (mucopolysaccharides). In many instances alcianophilia at 0.3 M MgCl(2) is more specific than metachromasia and does not give "false positives" sometimes found in normal indi...
Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal disorder caused by deficiency of N-acetylgalactosamine-4-sulfatase (ARSB), which is required for the degradation of dermatan sulfate. We recently reported mutational screening of 12 Spanish and 4 Argentinian MPS VI patients. In the present study, seven missense mutations (c.245T>G [p.L82R], c.413A>G [...
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...
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