Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses
Abstract Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to the death of the patient. In recent years, an increasing number of therapies have i...
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| Principais autores: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2024-04-01
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| Colecção: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s13023-024-03195-w |
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