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Aims
SPTLC1‐related disorder is a late onset sensory‐autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl‐CoA transferase (SPT) substrate, l‐serine. Recently, a juvenile form of motor neuron disease has been linked to SPTLC1 variants. Variants affecting the p.S331 residue of SPTLC1 cause a distinct phenotype, whose...
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