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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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Ohira, Mari, Okuyama, Torayuki, Mashima, Ryuichi
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Acesso em linha: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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