Merel S. Ebberink

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes et al. · Human Mutation · 2010 · 154 citations · Full text

Mendelian Disorder, Genetic Disorder, Zss Disorders +15

A novel defect of peroxisome division due to a homozygous non-sense mutation in the <i>PEX11β</i> gene

Merel S. Ebberink, Janet Koster, Gepke Visser et al. · Journal of Medical Genetics · 2012 · 129 citations

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the <i>PEX16</i> gene

Merel S. Ebberink, W.K. Chong, S. Denis et al. · Journal of Medical Genetics · 2010 · 91 citations · Full text

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase

Sacha Ferdinandusse, Simone Denis, Carlo W.T. van Roermund et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2017 · 84 citations · Full text

Bile Acid Biosynthesis, Novel Case, Biochemistry +14

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Tuva Barøy, Janet Koster, Petter Strømme et al. · Human Molecular Genetics · 2015 · 79 citations · Full text