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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

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