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1-O-Alkylglycerol Accumulation Reveals Abnormal Ether Glycerolipid Metabolism in Sjögren-Larsson Syndrome

Sjögren-Larsson syndrome (SLS) is an inherited metabolic disease characterized by ichthyosis, spasticity, intellectual disability and deficient oxidation and accumulation of of fatty aldehydes and alcohols. We investigated whether excess fatty alcohols in SLS are diverted into biosynthesis of ether...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: S’aulis, Dana, Khoury, Emily A., Zabel, Morgan, Rizzo, William B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7749063/
https://ncbi.nlm.nih.gov/pubmed/32800643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.08.002
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