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. Author manuscript; available in PMC: 2018 Jun 1.
Published in final edited form as: Hum Mutat. 2017 Mar 28;38(6):611–614. doi: 10.1002/humu.23211

FIGURE 2.

FIGURE 2

Defective ASAH1 function confirms the SMA-PME diagnosis. Total ceramide levels (A) and detailed ceramide profile (B) demonstrate a loss of ASAH1 function resulting in increased ceramides in patient-derived fibroblast cells compared with controls