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...

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Detalles Bibliográficos
Autores principales: Mashima, Ryuichi, Sakai, Eri, Kosuga, Motomichi, Okuyama, Torayuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Short Communication
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

Internet

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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