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

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 sulfate)...

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Detalles Bibliográficos
Autores principales: Andrade, Isadora, Ribeiro, River, Carneiro, Zumira A., Giugliani, Roberto, Pereira, Catarina, Cozma, Claudia, Grinberg, Daniel, Vilageliu, Lluïsa, Lourenco, Charles M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787900/
https://www.ncbi.nlm.nih.gov/pubmed/35078524
http://dx.doi.org/10.1186/s13256-021-03240-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787900/
https://www.ncbi.nlm.nih.gov/pubmed/35078524
http://dx.doi.org/10.1186/s13256-021-03240-3

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