Articles with "demyelination hereditary" as a keyword



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Demyelination in hereditary sensory neuropathy type‐1C

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Published in 2020 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51110

Abstract: Sphingolipids are enriched in the nerves. Serine‐palmitoyltransferase (SPT) catalyzes the key step of sphingolipids biosynthesis. Mutations in SPT subunits (SPTLC) lead to the excessive production of neurotoxic deoxysphingolipids (DoxSLs) in patients with Hereditary Sensory Neuropathy… read more here.

Keywords: sensory neuropathy; pathology; hereditary sensory; demyelination hereditary ... See more keywords