Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement

A 32-year-old developmentally delayed man presenting with dyspnea was found to have severe aortic and mitral valve stenosis. After double valve replacement, unique histologic findings prompted a genetics evaluation, ultimately leading to the diagnosis of mucopolysaccharidosis type I, a rare lysosoma...

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Detalles Bibliográficos
Autores principales: Sherwood, Dalton J., Adams, Michael C., Mazzella, Anthony J., Abid, Ahad, Prasada, Sudhir, Muenzer, Joseph, Johnson, Steven M., Yeung, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693276/
https://www.ncbi.nlm.nih.gov/pubmed/34984346
http://dx.doi.org/10.1016/j.jaccas.2021.10.013

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