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Radiological and Neuroradiological Features in Pediatric Mucopolysaccharidoses: A Retrospective Case Series from the Emilia-Romagna Regional Referral Center

<b>Background:</b> Mucopolysaccharidoses (MPSs) are rare lysosomal storage disorders characterized by multisystem involvement; notably, skeletal abnormalities known as dysostosis multiplex and varying degrees of central nervous system impairment. Accurate radiological evaluation is crucial for accur...

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Principais autores: Giovanni Silva, Elisa Bortolamedi, Michelangelo Baldazzi, Francesco Toni, Rita Ortolano, Egidio Candela, Giacomo Biasucci, Marcello Lanari, Federico Baronio
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2025-08-01
Serier:Applied Sciences
Fag:
mucopolysaccharidoses
dysostosis multiplex
newborn screening
lysosomal storage disorders
MPS
CNS alterations
Online adgang:https://www.mdpi.com/2076-3417/15/16/9093
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