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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Bibliografiske detaljer

Udgivet i:	J Clin Invest
Principais autores:	Hsia, Y. Edward, Scully, Katherine J., Rosenberg, Leon E.
Format:	Artigo
Sprog:	Inglês
Udgivet:	American Society for Clinical Investigation 1971
Fag:	Articles
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC291900/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5101292/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI106466
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