Articles with "hsan1" as a keyword



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Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

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Published in 2023 at "Genes"

DOI: 10.3390/genes14040931

Abstract: Hereditary sensory and autonomic neuropathy type 1 (HSAN1/HSN1) is a peripheral neuropathy most commonly associated with pathogenic variants in the serine palmitoyltransferase complex (SPTLC1, SPTLC2) genes, which are responsible for sphingolipid biosynthesis. Recent reports have… read more here.

Keywords: hsan1; mactel2; type mactel2; telangiectasia type ... See more keywords