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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab
Päätekijät: S’aulis, Dana, Khoury, Emily A., Zabel, Morgan, Rizzo, William B.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2020
Aiheet:
Linkit: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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