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

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Published in J Clin Invest on July 01, 1990

Authors

J C Heikoop1, C W van Roermund, W W Just, R Ofman, R B Schutgens, H S Heymans, R J Wanders, J M Tager

Author Affiliations

1: E.C. Slater Institute for Biochemical Research, University of Amsterdam, The Netherlands.

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