Bifunctional enzyme deficiency: Identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal β‐oxidation of unknown aetiology by means of complementation analysis

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Veröffentlicht in:Journal of inherited metabolic disease 1992-05, Vol.15 (3), p.385-388
Hauptverfasser: Wanders, R. J. A., Roermund, C. W. T., Brul, S., Schutgens, R. B. H., Tager, J. M.
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container_end_page 388
container_issue 3
container_start_page 385
container_title Journal of inherited metabolic disease
container_volume 15
creator Wanders, R. J. A.
Roermund, C. W. T.
Brul, S.
Schutgens, R. B. H.
Tager, J. M.
description
doi_str_mv 10.1007/BF02435983
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identifier ISSN: 0141-8955
ispartof Journal of inherited metabolic disease, 1992-05, Vol.15 (3), p.385-388
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source MEDLINE; SpringerLink Journals - AutoHoldings
subjects 3-Hydroxyacyl CoA Dehydrogenases - deficiency
3-Hydroxyacyl CoA Dehydrogenases - metabolism
Acetyl-CoA C-Acetyltransferase - metabolism
Acyl-CoA Oxidase
Biological and medical sciences
Cell Fusion
Cells, Cultured
Enoyl-CoA Hydratase - deficiency
Enoyl-CoA Hydratase - metabolism
Errors of metabolism
Fibroblasts - enzymology
Humans
Immunoblotting
Infant, Newborn
Isomerases - deficiency
Isomerases - metabolism
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - enzymology
Microbodies - enzymology
Multienzyme Complexes - deficiency
Multienzyme Complexes - metabolism
Oxidation-Reduction
Oxidoreductases - metabolism
Peroxisomal Bifunctional Enzyme
title Bifunctional enzyme deficiency: Identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal β‐oxidation of unknown aetiology by means of complementation analysis
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