Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Sjögren‐Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, and ichthyosis. The accumulation of fatty alcohols and fatty aldehydes has been demonstrated in plasma and skin but never i...

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Vydáno v:J Inherit Metab Dis
Hlavní autoři: Staps, Pippa, Rizzo, William B., Vaz, Frédéric M., Bugiani, Marianna, Giera, Martin, Heijs, Bram, van Kampen, Antoine H. C., Pras‐Raves, Mia L., Breur, Marjolein, Groen, Annemieke, Ferdinandusse, Sacha, van der Graaf, Marinette, Van Goethem, Gert, Lammens, Martin, Wevers, Ron A., Willemsen, Michèl A. A. P.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7689726/
https://ncbi.nlm.nih.gov/pubmed/32557630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12275
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