Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.

The rhizomelic form of chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized biochemically by an impairment of plasmalogen biosynthesis and phytanate catabolism. We have now found that the maturation of peroxisomal 3-oxoacyl-CoA thiolase is impaired in fibroblasts from RCDP patien...

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Detalles Bibliográficos
Publicado en:J Clin Invest
Main Authors: Heikoop, J C, van Roermund, C W, Just, W W, Ofman, R, Schutgens, R B, Heymans, H S, Wanders, R J, Tager, J M
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 1990
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296699/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2365812/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114674
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