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The diagnosis of mitochondrial HMG-CoA synthase deficiency.
Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pié J, Hoffmann GF, Hegardt FG, Mayatepek E. Zschocke J, et al. Among authors: casals n. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854. J Pediatr. 2002. PMID: 12072887
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.
Aledo R, Mir C, Dalton RN, Turner C, Pié J, Hegardt FG, Casals N, Champion MP. Aledo R, et al. Among authors: casals n. J Inherit Metab Dis. 2006 Feb;29(1):207-11. doi: 10.1007/s10545-006-0214-2. J Inherit Metab Dis. 2006. PMID: 16601895
Molecular genetics of HMG-CoA lyase deficiency.
Pié J, López-Viñas E, Puisac B, Menao S, Pié A, Casale C, Ramos FJ, Hegardt FG, Gómez-Puertas P, Casals N. Pié J, et al. Among authors: casals n. Mol Genet Metab. 2007 Nov;92(3):198-209. doi: 10.1016/j.ymgme.2007.06.020. Epub 2007 Aug 9. Mol Genet Metab. 2007. PMID: 17692550 Review.
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. Pié J, et al. Among authors: casals n. Am J Med Genet A. 2010 Apr;152A(4):924-9. doi: 10.1002/ajmg.a.33348. Am J Med Genet A. 2010. PMID: 20358602 Free PMC article.
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
Aledo R, Zschocke J, Pié J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG. Aledo R, et al. Among authors: casals n. Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554. Hum Genet. 2001. PMID: 11479731
Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition.
Morillas M, Gómez-Puertas P, Bentebibel A, Sellés E, Casals N, Valencia A, Hegardt FG, Asins G, Serra D. Morillas M, et al. Among authors: casals n. J Biol Chem. 2003 Mar 14;278(11):9058-63. doi: 10.1074/jbc.M209999200. Epub 2002 Dec 23. J Biol Chem. 2003. PMID: 12499375 Free article.
85 results