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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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Detalles Bibliográficos
Autores principales: Ohira, Mari, Okuyama, Torayuki, Mashima, Ryuichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129719/
https://www.ncbi.nlm.nih.gov/pubmed/30211004
http://dx.doi.org/10.1016/j.ymgmr.2018.08.005