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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Bibliografiska uppgifter
I publikationen:J Inherit Metab Dis
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley & Sons, Inc. 2020
Ämnen:
Original Articles
Länkar: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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