Chondrodysplasia Punctata, Rhizomelic
"Chondrodysplasia Punctata, Rhizomelic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
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An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
|Chondrodysplasia Punctata, Rhizomelic
- Chondrodysplasia Punctata, Rhizomelic
- Chondrodysplasia Punctatas, Rhizomelic
- Punctata, Rhizomelic Chondrodysplasia
- Punctatas, Rhizomelic Chondrodysplasia
- Rhizomelic Chondrodysplasia Punctatas
- Chondrodysplasia Punctata, Rhizomelic Form
- Rhizomelic Chondrodysplasia Punctata
Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata, Rhizomelic".
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Below are the most recent publications written about "Chondrodysplasia Punctata, Rhizomelic" by people in Profiles.
Pahan K, Khan M, Singh I. Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. J Lipid Res. 1996 May; 37(5):1137-43.