Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

Abstract Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan s...

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Autors principals:	Isadora Andrade, River Ribeiro, Zumira A. Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Daniel Grinberg, Lluïsa Vilageliu, Charles M. Lourenco
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2022-01-01
Col·lecció:	Journal of Medical Case Reports
Matèries:	Mucopolysaccharidosis MPS VI Maroteaux–Lamy syndrome Glycosaminoglycans Arylsulfatase B Enzyme replacement therapy
Accés en línia:	https://doi.org/10.1186/s13256-021-03240-3
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