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...

Descripción completa

Detalles Bibliográficos
Autores principales: Ohira, Mari, Barr, Marianne, Okuyama, Torayuki, Mashima, Ryuichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
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

Internet

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

Ejemplares similares