Cargando…
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...
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 |
Ejemplares similares
-
Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry
por: Mashima, Ryuichi, et al.
Publicado: (2016) -
Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry
por: Mashima, Ryuichi, et al.
Publicado: (2017) -
Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry
por: Mashima, Ryuichi, et al.
Publicado: (2020) -
The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry
por: Mashima, Ryuichi, et al.
Publicado: (2016) -
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots
por: Ohira, Mari, et al.
Publicado: (2022)