Find Project: Results of 8 Years

Introdução e Objectivos: 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 red flags of MPSs at pediatric age and to provide an useful tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy.

Palavras-chave

Mucopolysaccharidoses Lysosomal Storage Disorders MPS Hurler Hunter Sanfilippo Morquio Maroteaux-Lamy Doenças Lisossomais de Sobrecarga Doenças Geneticas

URI

http://hdl.handle.net/10400.18/11048

Coleções

DGH - Apresentações orais em encontros nacionais

Licença CC

Sem licença CC

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