Zellweger‐like phenotype in two siblings: A defect in peroxisomal β‐oxidation with elevated very long‐chain fatty acids but normal bile acids

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Bibliographic Details
Published in:	Journal of inherited metabolic disease Vol. 15; no. 3; pp. 381 - 384
Main Authors:	Mandel, H., Berant, M., Aizin, A., Gershony, R., Hemmli, S., Schutgens, R. B. H., Wanders, R. J. A.
Format:	Journal Article Conference Proceeding
Language:	English
Published:	Dordrecht Kluwer Academic Publishers 01-05-1992 Springer
Subjects:	Bile Acids and Salts - metabolism Biological and medical sciences Errors of metabolism Fatty Acids - blood Fatty Acids - metabolism Female Fibroblasts - metabolism Humans Immunoblotting Infant, Newborn Liver - ultrastructure Male Medical sciences Metabolic diseases Microbodies - metabolism Miscellaneous hereditary metabolic disorders Oxidation-Reduction Phenotype Zellweger Syndrome - metabolism Human Biochemical analysis Enzymatic activity Family study Chain length Clinical form Metabolic diseases Cerebrohepatorenal syndrome Enzymopathy Fatty acids Child
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