3-Hydroxyisobutyric aciduria with a mild clinical course
KeywordsPublic Health Internal Medicine
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- Gibson KM, Lee CF, Bennett MJ, Holmes B, Nyhan WL (1993) Combined malonic, methylmalonic and ethylmalonic semialdehyde dehydrogenase deficiencies: an inborn error of β-alanine,l-valine andl-alloisoleucine.J Inher Metab Dis 16: 563–567.Google Scholar
- Güneral F, Bachmann C (1994) Age related reference values for urinary organic acids in a healthy Turkish pediatric population.Clin Chem 40: 862–868.Google Scholar
- Hoffmann GF, Meier-Augenstein W, Stöckler S, Surtees R, Rating, Nyhan WL (1993) Physiology and pathophysiology of organic acids in cerebrospinal fluid.J Inher Metab Dis 16: 648–669.Google Scholar
- Pollitt RJ, Green A, Smith R (1985) Excessive excretion of β-alanine and 3-hydroxypropionic,R- andS-3-aminoisobutyric,R- andS-3-hydroxyisobutyric andS-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.J Inher Metab Dis 8: 75–79.Google Scholar
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