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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...

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Bibliografski detalji
Glavni autori: Hsia, Y. Edward, Scully, Katherine J., Rosenberg, Leon E.
Format: Artigo
Jezik:Inglês
Izdano: 1971
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC291900/
https://ncbi.nlm.nih.gov/pubmed/5101292
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