Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.

An infant with the characteristic phenotype of classical rhizomelic chondrodysplasia punctata was found to have an isolated deficiency of the peroxisomal enzyme acyl CoA dihydroxyacetone phosphate acyltransferase (DHAP-AT). All other peroxisomal functions measured were found to be normal. Previously...

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Bibliographic Details
Main Authors: Barr, D G, Kirk, J M, al Howasi, M, Wanders, R J, Schutgens, R B
Format: Artigo
Language:Inglês
Published: 1993
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1793893/
https://ncbi.nlm.nih.gov/pubmed/8466247
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