Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome, MPS VI, OMIM 253200) is caused by mutations in the gene coding for N-acetylgalactosamine-4-sulfatase (4-sulfatase, arylsulfatase B, ARSB, EC 3.1.6.12), a lysosomal enzyme involved in the degradation of dermatan sulfate (DS). The clinical presen...

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Detalles Bibliográficos
Autores principales: Jurecka, Agnieszka, Zakharova, Ekaterina, Malinova, Vera, Voskoboeva, Elena, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer London 2013
Materias:
Case Based Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000421/
https://www.ncbi.nlm.nih.gov/pubmed/24221504
http://dx.doi.org/10.1007/s10067-013-2423-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000421/
https://www.ncbi.nlm.nih.gov/pubmed/24221504
http://dx.doi.org/10.1007/s10067-013-2423-z

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