Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C. Pant, Aurora Pujol, Nathalie Launay et al.|Journal of Clinical Investigation|2019Cited by 106
Delineating the neurological phenotype in children with defects in the <scp><i>ECHS1</i></scp> or <scp><i>HIBCH</i></scp> geneLaura Martí‐Sánchez, Belén Pérez‐Dueñas, Heidy Baide‐Mairena et al.|Journal of Inherited Metabolic Disease|2020Cited by 38