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Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of lysosomal enzymes. The enzymes are required to break down glycosaminoglycans (GAGs) that help build bone, cartilage, tendons, corneas, skin and connective tissue. In patients with MPS, a missing enzyme...
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| Publicado no: | Nihon Masu Sukuriningu Gakkai Shi |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4303184/ https://ncbi.nlm.nih.gov/pubmed/25620850 |
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