Mucopolysaccharidosis Type VI, an Updated Overview of the Disease

Mucopolysaccharidosis type VI, or Maroteaux–Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group. The disease is due to pathogenic variants of the ARSB gene, coding for the lysosomal hydrolase N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB)...

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Detalles Bibliográficos
Autores principales: D’Avanzo, Francesca, Zanetti, Alessandra, De Filippis, Concetta, Tomanin, Rosella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8707598/
https://www.ncbi.nlm.nih.gov/pubmed/34948256
http://dx.doi.org/10.3390/ijms222413456

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