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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Inherit Metab Dis
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley & Sons, Inc. 2020
Gaiak:
Original Articles
Sarrera elektronikoa: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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