Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles

Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of sphingolipids, glycolipids, oligosaccharides, mucopolysaccharides, the oxidation products of cholesterol, and other biological substances. A growing number of clinical stud...

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Detalles Bibliográficos
Autores principales: Mashima, Ryuichi, Okuyama, Torayuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503834/
https://www.ncbi.nlm.nih.gov/pubmed/28725570
http://dx.doi.org/10.1016/j.ymgmr.2017.06.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503834/
https://www.ncbi.nlm.nih.gov/pubmed/28725570
http://dx.doi.org/10.1016/j.ymgmr.2017.06.007

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