O-link Explore 1536. Cerebrospinal Fluid. Samples from 28 individuals with NPC1 and 30 non NPC1 comparison samples. See: Biomark Res. 2023 Jan 31;11(1):14. doi: 10.1186/s40364-023-00448-x.
BackgroundThe biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential
We generated hepatic organoids from Nieman Pick Type B patients with the aim to investigate their lipid status. To discover genes related to lipid metabolism likely involved in lipid deposits. Overal
