3-Hydroxyisobutyric aciduria with a mild clinical course
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711767
Reference4 articles.
1. Gibson KM, Lee CF, Bennett MJ, Holmes B, Nyhan WL (1993) Combined malonic, methylmalonic and ethylmalonic semialdehyde dehydrogenase deficiencies: an inborn error of ?-alanine,l-valine andl-alloisoleucine.J Inher Metab Dis 16: 563?567.
2. G�neral F, Bachmann C (1994) Age related reference values for urinary organic acids in a healthy Turkish pediatric population.Clin Chem 40: 862?868.
3. Hoffmann GF, Meier-Augenstein W, St�ckler S, Surtees R, Rating, Nyhan WL (1993) Physiology and pathophysiology of organic acids in cerebrospinal fluid.J Inher Metab Dis 16: 648?669.
4. Pollitt RJ, Green A, Smith R (1985) Excessive excretion of ?-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.
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4. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria;Orphanet Journal of Rare Diseases;2013
5. Aminoacidemias and Organic Acidemias;Swaiman's Pediatric Neurology;2012
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