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Functional analysis of sphingolipids. (A) Simplified SPT structure and role of the enzyme in de novo sphingolipid and deoxysphingolipid synthesis. (B) Quantification of total dSA, ceramides, and dihydroceramides in plasma samples of patients with SPTLC1 variants in a context of HSAN1 suspicion, and the clinical–biological conclusion according to the results of the functional analysis.
