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Hunter Syndrome: The Phenotype of a Rare Storage Disease
Hunter syndrome is a rare lysosomal storage disorder with systemic involvement that occurs over time. Affected patients have coarse facial features, growth retardation with short stature, and skeletal deformities called dysostosis multiplex; joint stiffness, progressive mental retardation, and organ...
Autores principales: | Sousa Martins, Rute, Rocha, Sara, Guimas, Arlindo, Ribeiro, Rosa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8906563/ https://www.ncbi.nlm.nih.gov/pubmed/35282545 http://dx.doi.org/10.7759/cureus.21985 |
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