𝔖 Bobbio Scriptorium
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Reassessment of biotin-responsiveness in “unresponsive” propionyl CoA carboxylase deficiency

✍ Scribed by Barry Wolf


Book ID
119458261
Publisher
Elsevier Science
Year
1980
Tongue
English
Weight
241 KB
Volume
97
Category
Article
ISSN
1097-6833

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Abnormal metabolites of isoleucine in a
✍ 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