Article ID Journal Published Year Pages File Type
8309666 Clinica Chimica Acta 2018 18 Pages PDF
Abstract
NPC and LALD do not alter cholesterol content in the RBC membrane but increase osmotic resistance. Therefore, ORT serves as screening test for the studied LSDs.
Keywords
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Preview
The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases
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