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• Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release.

  Fernandes CG, Rodrigues MDN, Seminotti B, Colín-González AL, Santamaria A, Quincozes-Santos A, Wajner M. Fernandes CG, et al. Mol Neurobiol. 2016 Aug;53(6):3586-3595. doi: 10.1007/s12035-015-9289-9. Epub 2015 Jun 23. Mol Neurobiol. 2016. PMID: 26099308
• A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

  Pié J, Casals N, Casale CH, Buesa C, Mascaró C, Barceló A, Rolland MO, Zabot T, Haro D, Eyskens F, Divry P, Hegardt FG. Pié J, et al. Biochem J. 1997 Apr 15;323 ( Pt 2)(Pt 2):329-35. doi: 10.1042/bj3230329. Biochem J. 1997. PMID: 9163320 Free PMC article.
• Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.

  Gibson KM, Wappner RS, Jooste S, Erasmus E, Mienie LJ, Gerlo E, Desprechins B, De Meirleir L. Gibson KM, et al. J Inherit Metab Dis. 1998 Aug;21(6):631-8. doi: 10.1023/a:1005476315892. J Inherit Metab Dis. 1998. PMID: 9762598 No abstract available.
• Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

  Puisac B, Arnedo M, Casale CH, Ribate MP, Castiella T, Ramos FJ, Ribes A, Pérez-Cerdá C, Casals N, Hegardt FG, Pié J. Puisac B, et al. J Inherit Metab Dis. 2010 Aug;33(4):405-10. doi: 10.1007/s10545-010-9097-3. Epub 2010 Jun 8. J Inherit Metab Dis. 2010. PMID: 20532825 Free PMC article.
• Inborn errors of ketogenesis and ketone body utilization.

  Sass JO. Sass JO. J Inherit Metab Dis. 2012 Jan;35(1):23-8. doi: 10.1007/s10545-011-9324-6. Epub 2011 Apr 9. J Inherit Metab Dis. 2012. PMID: 21479626 Review.