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A new method for the identification of mucopolysaccharidosis and oligosaccharidosis
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Resumo(s)
Introdução e Objectivos: Lysosomal storage disorders are a group of rare diseases that affect approximately 1 in 4,000 live births in Portugal (Pinto et al , 2004). They are characterized by multisystemic involvement and a wide range of phenotypical presentations, often overlapping with other diseases. As a result, many patients experience a lengthy process of seeking a correct diagnosis, known as the "diagnostic odyssey". To address this challenge, a new tandem mass spectrometry method has been developed for the urinary identification of both oligosaccharides and mucopolysaccharides(MPS).
Descrição
Palavras-chave
Lysosomal Storage Disorders Mucopolysaccharidosis Oligosaccharidosis Doenças Genéticas