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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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 em: 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC296699/
https://ncbi.nlm.nih.gov/pubmed/2365812
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