P. A. Mooijer

发表

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

S. Ferdinandusse, S. Denis, H. Waterham, 2010, Journal of Medical Genetics.

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

R. Wanders, P. Aubourg, E. G. van Grunsven, 1999, Human molecular genetics.

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

H. Waterham, R. Wanders, J. Koster, 2011, Human mutation.

Identificatio nn of the peroxisomal p-oxidation enzymes involved in the biosynthesiss of docosahexaenoic acid

Reddy, S. Ferdinandusse, S. Denis, 2007 .

Identificationn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturing of cells at 40 ° C : implicationss for other inborn errors of metabolism

H. Waterham, R. Wanders, J. Smeitink, 2017 .

Identificatio nn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturin g of cells at 40 ° C : implicationss for other inborn errors of metabolism

H. Waterham, R. Wanders, J. Smeitink, 2007 .

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

H. Waterham, H. Mandel, R. Wanders, 2004, Human mutation.

Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.

H. Waterham, R. Wanders, H. Mandel, 2003, Advances in experimental medicine and biology.

Genetic basis of peroxisomes-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts (letter)

R. Wanders, T. Imanaka, F. Beemer, 1998 .

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

H. Waterham, R. Wanders, S. Korman, 2002, American journal of human genetics.

Galactose Epimerase Deficiency: Expanding the Phenotype.

S. Ferdinandusse, G. Matthijs, L. Diogo, 2017, JIMD reports.

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.

T Hashimoto, H. Moser, R. Wanders, 1999, American journal of human genetics.

D-Hydroxyacyl-CoA Dehydrogenase Deficiency

S. Denis, R. Wanders, E. V. Grunsven, 2002 .

A novel cell model to study the function of the adrenoleukodystrophy-related protein.

R. Wanders, S. Kemp, Tatiana E Lopez, 2006, Biochemical and biophysical research communications.

Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.

S. Ferdinandusse, S. Denis, R. Wanders, 2001, Journal of lipid research.