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Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry
Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of glycolipids, oligosaccharides, mucopolysaccharides, sphingolipids, and other biological substances. Accumulating evidence has suggested that early detection of individuals...
Autores principales: | Mashima, Ryuichi, Sakai, Eri, Kosuga, Motomichi, Okuyama, Torayuki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011175/ https://www.ncbi.nlm.nih.gov/pubmed/27625992 http://dx.doi.org/10.1016/j.ymgmr.2016.08.007 |
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