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

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 shown that some HSA...

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Detalles Bibliográficos
Autores principales: Wilson, Lindsey M. Q., Saba, Sadaf, Li, Jun, Prasov, Lev, Miller, Jason M. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137565/
https://www.ncbi.nlm.nih.gov/pubmed/37107689
http://dx.doi.org/10.3390/genes14040931

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