Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Mucolipidosis type II and III (MLII/III) is caused by defects in the mannose-6-phosphate system, which is essential to target most of the lysosomal hydrolases to the lysosome. MLII/III patients present with marked elevations in the activities of most lysosomal enzymes in plasma, but their profiles i...

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Detalles Bibliográficos
Autores principales: Hong, Xinying, Pollard, Laura, He, Miao, Gelb, Michael H., Wood, Timothy C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233272/
https://www.ncbi.nlm.nih.gov/pubmed/37275682
http://dx.doi.org/10.1016/j.ymgmr.2023.100978

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233272/
https://www.ncbi.nlm.nih.gov/pubmed/37275682
http://dx.doi.org/10.1016/j.ymgmr.2023.100978

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