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Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group

โœ Scribed by A.M. Motley; H.F. Tabak; J.A.M. Smeitink; B.T. Poll-The; P.G. Barth; R.J.A. Wanders


Book ID
116159975
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
436 KB
Volume
1315
Category
Article
ISSN
0925-4439

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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