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 cruci...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Giovanni Silva, Elisa Bortolamedi, Michelangelo Baldazzi, Francesco Toni, Rita Ortolano, Egidio Candela, Giacomo Biasucci, Marcello Lanari, Federico Baronio
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI AG 2025-08-01
Cyfres:Applied Sciences
Pynciau:
mucopolysaccharidoses
dysostosis multiplex
newborn screening
lysosomal storage disorders
MPS
CNS alterations
Mynediad Ar-lein:https://www.mdpi.com/2076-3417/15/16/9093
Tagiau: Ychwanegu Tag
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