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LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots
Lysosomal acid lipase deficiency (LAL-D) (OMIM: 278000) is a lysosomal storage disorder with two distinct disease phenotypes such as Wolman disease and cholesteryl ester storage disorder (CESD), characterized by an accumulation of endocytosed cholesterol in the body. Due to the presence of multiple...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9440593/ https://www.ncbi.nlm.nih.gov/pubmed/36065451 http://dx.doi.org/10.1016/j.ymgmr.2022.100913 |