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The detection of abnormal metabolites in MCAD deficiency: a new method

✍ Scribed by W. Blom; A. C. Polder-Mol; H. H. Kelholt-Dijkman; L. Hierck; J. G. M. Huijmans

Publisher
Springer
Year
1990
Tongue
English
Weight
440 KB
Volume
13
Category
Article
ISSN
0141-8955

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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