very long-chain fatty acids

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Joanna Schneider, Daniel J Salchow, Dominik Seelow, Ellen Knierim, Werner Stenzel, Akio Kihara, Markus Schuelke

Journal of Medical Genetics Mar 2019, 56 (3) 164-175; DOI: 10.1136/jmedgenet-2018-105711
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
Sacha Ferdinandusse, Kim D Falkenberg, Janet Koster, Petra A Mooyer, Richard Jones, Carlo W T van Roermund, Amy Pizzino, Michael Schrader, Ronald J A Wanders, Adeline Vanderver, Hans R Waterham

Journal of Medical Genetics May 2017, 54 (5) 330-337; DOI: 10.1136/jmedgenet-2016-104132

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very long-chain fatty acids