Associated Papers
A sensitive method for determining UDP-glucose: ceramide glucosyltransferase (UGCG) activity in biological samples using deuterated glucosylceramide as acceptor substrate.
Cas MD et al.
Glycobiology, 2023
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency.
Monies D et al.
Clinical Genetics, 2018
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