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Inherited propionyl-CoA carboxylase deficiency in “ketotic hyperglycinemia”
Cultured fibroblasts from a young girl with ketotic hyperglycinemia were unable to oxidize propionate-(14)C to (14)CO(2), but oxidized methylmalonate-(14)C and succinate-(14)C normally. This block in propionate catabolism was shown to result from a lack of propionyl-CoA carboxylase activity. The car...
Bewaard in:
| Hoofdauteurs: | , , |
|---|---|
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
1971
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC291900/ https://ncbi.nlm.nih.gov/pubmed/5101292 |
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