Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata
- 1 January 1993
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 16 (5) , 868-871
- https://doi.org/10.1007/bf00714280
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctataEuropean Journal of Pediatrics, 1992
- Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseasesBiochemical Pharmacology, 1991
- Aberrant Subcellular Localization of Peroxisomal 3-Ketoacyl-CoA Thiolase in the Zellweger Syndrome and Rhizomelic Chondrodysplasia PunctataPediatric Research, 1990
- Isolation and characterization of Chinese hamster ovary cell mutants defective in assembly of peroxisomes.The Journal of cell biology, 1990
- Nonspecific lipid transfer protein (Sterol carrier protein-2) defective in patients with deficient peroxisomes.Cell Structure and Function, 1990
- Immunoblot detection of enzyme proteins of peroxisomal β-oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndromePrenatal Diagnosis, 1988
- Biochemical abnormalities in rhizomelic chondrodysplasia punctataThe Journal of Pediatrics, 1988
- Molecular analysis of peroxisomal β-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: Further heterogeneity of the peroxisomal disorderClinica Chimica Acta; International Journal of Clinical Chemistry, 1988
- Peroxisomal abnormalities in rhizomelic chondrodysplasia punctataJournal of Inherited Metabolic Disease, 1986
- Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndromeBiochemical and Biophysical Research Communications, 1984