Open AccesseP176: Metabolomics reveals measurable perturbations in de novo ceramide biosynthesis in DEGS1 associated-hypomyelinating leukodystrophy - Towards a clinically significant biomarker profile
Author(s) -
Rachel Logan,
Stephanie Keller,
Qin Sun,
Sarah H. Elsea,
Ning Liu
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.01.212
Subject(s) - ceramide , leukodystrophy , metabolomics , biomarker , sphingolipid , biology , medicine , microbiology and biotechnology , genetics , bioinformatics , disease , apoptosis
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