Article

Novel cytometry-based characterization of lysosomal storage disease affected patient's cells

2025-03-18

Abstract excerpt

Wolman disease (WD) is a severe lysosomal storage disorder characterized by fatal lipid accumulation caused by the deficiency of a lipid metabolic enzyme, Lysosomal Acid Lipase (LAL), involved in the lysosomal hydrolysis of cholesterols and triglycerides. Due to the imbalance of lipids homeostasis, WD patients suffer from severe hepatosplenomegaly, hepatic failure and adrenal calcification resulting in a premature...

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Literature Corpus work: a2e7580e-5d7f-5195-8cd2-831d5d9b283b
DOI: 10.1101/2025.03.18.643908

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