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Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J. Menao S, et al. Hum Mutat. 2009 Mar;30(3):E520-9. doi: 10.1002/humu.20966. Hum Mutat. 2009. PMID: 19177531
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.
Casale CH, Casals N, Pié J, Zapater N, Pérez-Cerdá C, Merinero B, Martínez-Pardo M, García-Peñas JJ, García-Gonzalez JM, Lama R, Poll-The BT, Smeitink JA, Wanders RJ, Ugarte M, Hegardt FG. Casale CH, et al. Arch Biochem Biophys. 1998 Jan 1;349(1):129-37. doi: 10.1006/abbi.1997.0456. Arch Biochem Biophys. 1998. PMID: 9439591
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
García-Villoria J, Navarro-Sastre A, Fons C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MA, González I, Hernández-Gonzalez A, Fernández C, Campistol J, Delpiccolo C, Cortés N, Messeguer A, Briones P, Ribes A. García-Villoria J, et al. Clin Biochem. 2009 Jan;42(1-2):27-33. doi: 10.1016/j.clinbiochem.2008.10.006. Epub 2008 Oct 25. Clin Biochem. 2009. PMID: 18996107
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Córdoba SR, Ugarte M, Peñalva MA. Gallardo ME, et al. Am J Hum Genet. 2001 Feb;68(2):334-46. doi: 10.1086/318202. Epub 2001 Jan 17. Am J Hum Genet. 2001. PMID: 11170888 Free PMC article.
130 results