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Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry
Lysosomal storage disorders (LSDs) are characterized by the accumulation of lipids, glycolipids, oligosaccharides, mucopolysaccharides, and other biological substances because of the pathogenic deficiency of lysosomal enzymes. Such diseases are rare; thus, a multiplex assay for these disorders is ef...
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| Опубликовано в: : | Mol Genet Metab Rep |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6129719/ https://ncbi.nlm.nih.gov/pubmed/30211004 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.08.005 |
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