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Chemical Compound Review

AG-G-02792     3-methylpent-2-enedioic acid

Synonyms: KB-32636, CTK5A6911, NSC 249232, AC1L417P, 5746-90-7, ...
 
 
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Disease relevance of NSC249232

 

High impact information on NSC249232

 

Analytical, diagnostic and therapeutic context of NSC249232

References

  1. Preliminary evidence for a cognitive phenotype in Barth syndrome. Mazzocco, M.M., Kelley, R.I. Am. J. Med. Genet. (2001) [Pubmed]
  2. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Kleta, R., Skovby, F., Christensen, E., Rosenberg, T., Gahl, W.A., Anikster, Y. Mol. Genet. Metab. (2002) [Pubmed]
  3. Urinary organic acid screening in children with developmental language delay. Michelson, M., Harel, S., Gutman, A., Lerman-Sagie, T. J. Inherit. Metab. Dis. (1999) [Pubmed]
  4. 3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria. Wysocki, S.J., Wilkinson, S.P., Hähnel, R., Wong, C.Y., Panegyres, P.K. Clin. Chim. Acta (1976) [Pubmed]
  5. Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase. Truscott, R.J., Halpern, B., Wysocki, S.J., Hähnel, R., Wilcken, B. Clin. Chim. Acta (1979) [Pubmed]
  6. Fungal metabolic model for type I 3-methylglutaconic aciduria. Rodríguez, J.M., Ruíz-Sala, P., Ugarte, M., Peñalva, M.A. J. Biol. Chem. (2004) [Pubmed]
  7. Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency. Mitchell, G.A., Jakobs, C., Gibson, K.M., Robert, M.F., Burlina, A., Dionisi-Vici, C., Dallaire, L. Prenat. Diagn. (1995) [Pubmed]
  8. Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry. Kelley, R.I. Clin. Chim. Acta (1993) [Pubmed]
  9. Multiple syndromes of 3-methylglutaconic aciduria. Gibson, K.M., Elpeleg, O.N., Jakobs, C., Costeff, H., Kelley, R.I. Pediatric neurology. (1993) [Pubmed]
  10. Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. Mack, M., Schniegler-Mattox, U., Peters, V., Hoffmann, G.F., Liesert, M., Buckel, W., Zschocke, J. FEBS J. (2006) [Pubmed]
 
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