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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.
J Clin Invest. 2019.
PMID: 30620337
Free PMC article.
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I.
Karsai G, et al.
J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11.
J Clin Invest. 2019.
PMID: 30620338
Free PMC article.
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