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Early Diagnosis of Mucopolysaccharidoses in Pediatrics

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Introduction: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years or even missed. The FIND PROJECT was designed to claim awareness to the redflags of MPSs at pediatric age and to provide a useful tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy.

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Mucopolysaccharidoses (MPSs) Lysosomal Storage Disorders Pediatrics Doenças Genéticas

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Sem licença CC