Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome

Ronald J. A. Wanders, Milan Kos, B.C. Roest, +7

Biochemical and Biophysical Research Communications

Peroxisomal EnzymesCellular EnzymologyBiochemistryPhysiologyBiochemical Genetics +6

Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome

R. B. H. Schutgens, G.J. Romeyn, Ronald J. A. Wanders, +3

Biochemical and Biophysical Research Communications

HepatologyBiochemistryInherited Metabolic DiseaseIga GlomerulonephritisDihydroxyacetone Phosphate Acyltransferase +3

Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction

Bwee Tien Poll‐The, Jean‐Marie Saudubray, H. Ogier, +9

Journal of Inherited Metabolic Disease

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.

G. Schrakamp, Casper G. Schalkwijk, R. B. H. Schutgens, +3

Journal of Lipid Research

The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts

G. Schrakamp, R. B. H. Schutgens, Ronald J. A. Wanders, +3

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Skin DevelopmentFibrosisDevelopmental BiologyHepatologyLiver Physiology +7

Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome.

G. Schrakamp, C.F.P. Roosenboom, R. B. H. Schutgens, +4

Journal of Lipid Research

Peroxisomal β-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome

R. J. A. Wanders, Carlo W.T. van Roermund, Conny T. de Vries, +5

Clinica Chimica Acta

Human Liver HomogenatesHepatologyBiochemistryLiver PhysiologyPeroxisomal β-Oxidation +9

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins

Ronald J. A. Wanders, R. B. H. Schutgens, G. Schrakamp, +6

European Journal of Pediatrics

Alkyldihydroxyacetone Phosphate SynthaseBiochemistryCatalase-containing ParticlesInfantile Refsum DiseasePathogenesis +6

Neonatal adrenoleukodystrophy

Ronald J. A. Wanders, R. B. H. Schutgens, G. Schrakamp, +4

Journal of the Neurological Sciences

A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells

Ronald J. A. Wanders, G. Schrakamp, H. van den Bosch, +2

European Journal of Pediatrics

Developmental BiologyAmniotic Fluid CellsCatalase-containing ParticlesPhysiologyPathology +7