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Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia

✍ Scribed by J. A. Del Valle; Begonñ Merinero; María J. García; Magdalena Ugarte; F. Omeñaca; G. Neustadt

Publisher
Springer
Year
1980
Tongue
English
Weight
101 KB
Volume
3
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 Céspedes; Alba Ros 📂 Article 📅 1978 🏛 John Wiley and Sons 🌐 English ⚖ 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