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Deficiency of propionyl-CoA carboxylase and methylcrotonyl-CoA carboxylase in a patient with methylcrotonylglycinuria

✍ Scribed by Walter Weyler; Lawrence Sweetman; Dominic C. Maggio; William L. Nyhan

Book ID
115821633
Publisher
Elsevier Science
Year
1977
Tongue
English
Weight
597 KB
Volume
76
Category
Article
ISSN
0009-8981

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πŸ“œ SIMILAR VOLUMES

Abnormal metabolites of isoleucine in a
Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency
✍ Lawrence Sweetman; Walter Weyler; William L. Nyhan; Carlos de CΓ©spedes; Alba Ros πŸ“‚ Article πŸ“… 1978 πŸ› John Wiley and Sons 🌐 English βš– 954 KB

A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of a patient with an inherited deficiency of propionyl-CoA carboxylase. These included the isoleucine metabolites 2-methyl-3-hydroxybutyric acid and 2-methylacetoacetic acid. These isomers 3-hy