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A Specific Substrate for the Assay of Lysosomal Acid Lipase

BACKGROUND: Deficiency of lysosomal acid lipase (LAL) causes Wolman and cholesterol ester storage diseases. With the recent introduction of enzyme replacement therapy to treat LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS)....

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Detalhes bibliográficos
Publicado no:Clin Chem
Main Authors: Masi, Sophia, Chennamaneni, Naveen, Turecek, Frantisek, Scott, C. Ronald, Gelb, Michael H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6383652/
https://ncbi.nlm.nih.gov/pubmed/29339442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2017.282251
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