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PMID: 2122104 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

Journal of inherited metabolic disease ·Vol. 13 ·No. 3 ·1990-00-00 ·Pages 375-9

Wanders RJ, van Roermund CW, Schelen A, Schutgens RB, Tager JM, Stephenson JB, Clayton PT

Abstract

暂无摘要

MeSH Terms
3-Hydroxyacyl CoA Dehydrogenases/deficiency Acatalasia Cell Fractionation Cells, Cultured Enoyl-CoA Hydratase/deficiency Fibroblasts/ultrastructure Humans Isomerases Microbodies/enzymology Multienzyme Complexes/deficiency Oxidation-Reduction Peroxisomal Bifunctional Enzyme Zellweger Syndrome/enzymology
Chemicals
Multienzyme Complexes 3-Hydroxyacyl CoA Dehydrogenases EHHADH protein, human Enoyl-CoA Hydratase Peroxisomal Bifunctional Enzyme Isomerases
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Wanders R J
Department of Paediatrics, University Hospital Amsterdam, The Netherlands.
van Roermund C W
Schelen A
Schutgens R B
Tager J M
Stephenson J B
Clayton P T
References (4)
4 references, click to expand
  1. The inborn errors of peroxisomal beta-oxidation: a review.
    J Inherit Metab Dis. 1990;13(1):4-36 PMID: 2109148
  2. Peroxisomal bifunctional enzyme deficiency.
    J Clin Invest. 1989 Mar;83(3):771-7 PMID: 2921319
  3. Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.
    J Inherit Metab Dis. 1988;11 Suppl 2:165-8 PMID: 3141700
  4. Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.
    Neurology. 1988 Jul;38(7):1100-7 PMID: 3386829
Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1007/BF01799399
Published
1990-00-00
Pages
375-9
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1007/BF01799399 View journal details
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