Eveline M. Hogenhout

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Alison M. Motley, Ewald H. Hettema, Eveline M. Hogenhout et al. · Nature Genetics · 1997 · 272 citations

Rhizomelic Chondrodysplasia Punctata, Signal Transduction, Disease Mechanism +8

Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency

Sacha Ferdinandusse, Simone Denis, Eveline M. Hogenhout et al. · Human Mutation · 2007 · 149 citations

Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1

Alison M. Motley, Pedro Brites, Lisya Gerez et al. · The American Journal of Human Genetics · 2002 · 107 citations · Full text

Pex7 Gene, Genetic Disorder, Genetics +7

Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein

Sacha Ferdinandusse, E.G. van Grunsven, W. Oostheim et al. · The American Journal of Human Genetics · 2002 · 48 citations · Full text

True Defect, Biochemistry, Natural Sciences +4

Phytanoyl-CoA hydroxylase from rat liver: protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid α-oxidation

Gerbert A. Jansen, Rob Ofman, Simone Denis et al. · Journal of Lipid Research · 1999 · 20 citations · Full text