GeneticsJournal of Clinical InvestigationPeer-reviewed
Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans
Gergely Karsai, Florian Kraft, Natja Haag…·Ingo Kurth
This study identifies a DEGS1 mutation causing sphingolipid metabolism defects, leading to neurological disorders and suggests dietary intervention as a potential treatment.
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