Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis.
Department of Pediatrics, University Hospital Amsterdam, The Netherlands.
R J
RJ
Wanders
C W
CW
van Roermund
S
S
Brul
R B
RB
Schutgens
J M
JM
Tager
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000378:metabolism; D000101:Acetyl-CoA C-Acetyltransferase / Q000378:metabolism; D042962:Acyl-CoA Oxidase; D002459:Cell Fusion; D002478:Cells, Cultured; D004746:Enoyl-CoA Hydratase / Q000172:deficiency* / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D015151:Immunoblotting; D007231:Infant, Newborn; D007535:Isomerases / Q000172:deficiency* / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008830:Microbodies / Q000201:enzymology*; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000378:metabolism; D010084:Oxidation-Reduction; D010088:Oxidoreductases / Q000378:metabolism; D063994:Peroxisomal Bifunctional Enzyme
D009097:Multienzyme Complexes; D010088:Oxidoreductases; D015094:3-Hydroxyacyl CoA Dehydrogenases; D042962:Acyl-CoA Oxidase; D000101:Acetyl-CoA C-Acetyltransferase; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases