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. Author manuscript; available in PMC: 2021 Sep 24.
Published in final edited form as: Hum Mutat. 2017 Jul 25;38(11):1491–1499. doi: 10.1002/humu.23291

Figure 3: Acid sphingomyelinase assay.

Figure 3:

Acid sphingomyelinase was measured as candidate defect in 95RD414 and in three controls (CABMHF3, a case with no detected pathogenic changes in NPC1 and GM23248 and GM23249, fibroblasts from two apparently normal individuals). Cholesterol esterification assays and filipin staining on all four lines were within control values. Error bars indicate SEM.