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Mucopolysaccharidoses: early diagnostic signs in infants and children
Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity, share key clinical features in varying combinations, inclu...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238260/ https://www.ncbi.nlm.nih.gov/pubmed/30442162 http://dx.doi.org/10.1186/s13052-018-0550-5 |