Author:
Vargas C. R.,Sitta A.,Schmitt G.,Ferreira G. C.,Cardoso M. L.,Coelho D.,Gibson K. M.,Wajner M.
Subject
Genetics(clinical),Genetics
Reference28 articles.
1. Al-Sayed M, Imtiaz F, Alsmadi O, Rashed MS, Meyer BF (2006) Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. BMC Med Genet 16:7–86
2. Alsmadi O, Al-Kayal F, Al-Sayed M, Rashed MS, Imtiaz F, Meyer BF (2006) LCGreen I-based real-time PCR assays for detecting common ASL and HMGCL variants. Clin Chem 52(7):1439–1440
3. Brunengraber H, Roe CR (2006) Anaplerotic molecules: current and future. J Inherit Metab Dis 29:327–331
4. Cardoso ML, Rodrigues MR, Leão E et al (2004) The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. Mol Genet Metab 82:334–338
5. Casale CH, Casals N, Pie J et al (1998) A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients. Arch Biochem Biophys 349:129–137
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