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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Publicat a:	J Clin Invest
Autors principals:	Heikoop, J C, van Roermund, C W, Just, W W, Ofman, R, Schutgens, R B, Heymans, H S, Wanders, R J, Tager, J M
Format:	Artigo
Idioma:	Inglês
Publicat:	American Society for Clinical Investigation 1990
Matèries:	Research Article
Accés en línia:	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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