Publications

Karsai G et al. DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. J. Clin. Invest. 2019;129(3):1229-1239. PMID: 30620338.

Pant DC et al. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J. Clin. Invest. 2019;129(3):1240-1256. PMID: 30620337.

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