Authors: Ferdinandusse, Sacha Ylianttila, Mari S. Gloerich, Jolein Koski, M. Kristian Oostheim, Wendy Waterham, Hans R. Hiltunen, J. Kalervo Wanders, Ronald J.A. Glumoff, Tuomo

Citation: Ferdinandusse, Sacha et al., Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis, American journal of human genetics , 78(1), 2006, pp. 112-124