A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase
Author(s) -
Regina El Dib
Publication year - 2009
Publication title -
biologics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.948
H-Index - 38
eISSN - 1177-5491
pISSN - 1177-5475
DOI - 10.2147/btt.2009.3580
Subject(s) - enzyme replacement therapy , mucopolysaccharidosis , medicine , scielo , intensive care medicine , quality of life (healthcare) , medline , placebo , pediatrics , physical therapy , pathology , alternative medicine , biology , disease , biochemistry , nursing
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.
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