Rhizomelic chondrodysplasia punctata: Early recognition with antenatal ultrasonography
โ Scribed by Peter W. Gendall; C. Emma Baird; David M. O. Becroft
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 399 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0091-2751
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PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Mutations in PEX7 cause rhizomelic chondrodysplasia punctata (RCDP), a distinct peroxisome biogenesis disorder. In previous work we described three nov
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