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The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
BACKGROUND: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling conse...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943501/ https://www.ncbi.nlm.nih.gov/pubmed/35331284 http://dx.doi.org/10.1186/s13023-022-02285-x |