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Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

โœ Scribed by Kumada, S. ;Hayashi, M. ;Kenmochi, J. ;Kurosawa, S. ;Shimozawa, N. ;Kratz, Lisa E. ;Kelley, Richard I. ;Taki, K. ;Okaniwa, M.


Book ID
101316474
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
278 KB
Volume
98
Category
Article
ISSN
0148-7299

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Variant rhizomelic chondrodysplasia punc
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