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A case of chondrodysplasia punctata(non-rhizomelic type): An immunohistochemical and ultrastructural study

โœ Scribed by Kurokawa, I.; Tanaka, M.; Ikeda, T.; Owa, K.; Shinomiya, K.

Book ID
123093164
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
127 KB
Volume
4
Category
Article
ISSN
0923-1811

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โœ Barth, Peter G.; Wanders, Ronald J. A.; Schutgens, Ruud B. H.; Staalman, Chris R ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 26 KB

Rhizomelic chondrodysplasia calcificans punctata (RCDP) is an autosomal recessive peroxisomal disorder which affects phytanic acid oxidation and de novo biosynthesis of plasmalogens in liver and fibroblasts. Peroxisomal thiolase is present in its unprocessed precursor form (44 kDa). We studied a men