Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

Mucopolysaccharidoses (MPS) are a subgroup of 11 monogenic lysosomal storage disorders due to the deficit of activity of the lysosomal hydrolases deputed to the degradation of mucopolysaccharides. Although individually rare, all together they account for at least 1:25,000 live births. In this study,...

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Detalles Bibliográficos
Autores principales: Zanetti, Alessandra, D’Avanzo, Francesca, Rigon, Laura, Rampazzo, Angelica, Concolino, Daniela, Barone, Rita, Volpi, Nicola, Santoro, Lucia, Lualdi, Susanna, Bertola, Francesca, Scarpa, Maurizio, Tomanin, Rosella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459791/
https://www.ncbi.nlm.nih.gov/pubmed/30809705
http://dx.doi.org/10.1007/s00431-019-03341-8

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