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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
Chemical Compound Review

AGN-PC-00IWOY     [5-(6-aminopurin-9-yl)-4- hydroxy-2...

Synonyms: CTK8J0026, AC1L18DD
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Disease relevance of 2-METHYL-3-HYDROXY-BUTYRYL-COA


High impact information on 2-METHYL-3-HYDROXY-BUTYRYL-COA


Associations of 2-METHYL-3-HYDROXY-BUTYRYL-COA with other chemical compounds




  1. The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior. Lenski, C., Frank Kooy, R., Reyniers, E., Loessner, D., Wanders, R.J., Winnepenninckx, B., Hellebrand, H., Engert, S., Schwartz, C.E., Meindl, A., Ramser, J. Am. J. Hum. Genet. (2007) [Pubmed]
  2. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. Poll-The, B.T., Wanders, R.J., Ruiter, J.P., Ofman, R., Majoie, C.B., Barth, P.G., Duran, M. Mol. Genet. Metab. (2004) [Pubmed]
  3. Inborn errors of isoleucine degradation: A review. Korman, S.H. Mol. Genet. Metab. (2006) [Pubmed]
  4. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Tyni, T., Paetau, A., Strauss, A.W., Middleton, B., Kivelä, T. Pediatr. Res. (2004) [Pubmed]
  5. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. García-Villoria, J., Ofman, R., Sala, P.R., Merinero, B., Ramos, J., García-Silva, M.T., Beseler, B., Dalmau, J., Wanders, R.J., Ugarte, M. Pediatr. Res. (2005) [Pubmed]
  6. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Ofman, R., Ruiter, J.P., Feenstra, M., Duran, M., Poll-The, B.T., Zschocke, J., Ensenauer, R., Lehnert, W., Sass, J.O., Sperl, W., Wanders, R.J. Am. J. Hum. Genet. (2003) [Pubmed]
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