Lysosomal storage disorders for the pediatric rheumatologist: the example of mucopolysaccharydoses
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چکیده
منابع مشابه
Lysosomal storage disorders for the pediatric rheumatologist: the example of mucopolysaccharydoses
The Mucopolysaccharidoses (MPS) are a group of diseases caused by complete or partial deficiency of lysosomal enzymes responsible for glycosaminoglycans catabolism. Their accumulation within the lysosome leads to cellular damage and organ failure [1,2]. The musculoskeletal system is the most frequently affected one. Joint stiffness, contractures (claw hand), dysostosis multiplex, and carpal tun...
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15 صفحه اولTreatments for lysosomal storage disorders.
There are over 70 human diseases that are caused by defects in various aspects of lysosomal function. Until 20 years ago, the only specific therapy available for lysosomal storage disorders was allogeneic haemopoietic stem cell transplantation. Over the last two decades, there has been remarkable progress and there are now licensed treatments for seven of these diseases. In some cases, a choice...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2015
ISSN: 1824-7288
DOI: 10.1186/1824-7288-41-s2-a17