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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...

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Detalles Bibliográficos
Autores principales: Sousa Martins, Rute, Rocha, Sara, Guimas, Arlindo, Ribeiro, Rosa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
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