We report on a newborn girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain fatty acids. We found a defect of the fission of both...
Authors: Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV