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Page 1
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Gallego D, et al. Among authors: campistol j. Hum Mutat. 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30. Hum Mutat. 2020. PMID: 32333439 Free article.
Ubiquinone-10 content in lymphocytes of phenylketonuric patients.
Colomé C, Artuch R, Vilaseca MA, Sierra C, Brandi N, Cambra FJ, Lambruschini N, Campistol J. Colomé C, et al. Among authors: campistol j. Clin Biochem. 2002 Feb;35(1):81-4. doi: 10.1016/s0009-9120(02)00278-3. Clin Biochem. 2002. PMID: 11937084
Lipophilic antioxidants in patients with phenylketonuria.
Colomé C, Artuch R, Vilaseca MA, Sierra C, Brandi N, Lambruschini N, Cambra FJ, Campistol J. Colomé C, et al. Among authors: campistol j. Am J Clin Nutr. 2003 Jan;77(1):185-8. doi: 10.1093/ajcn/77.1.185. Am J Clin Nutr. 2003. PMID: 12499340
A longitudinal study of antioxidant status in phenylketonuric patients.
Artuch R, Colomé C, Sierra C, Brandi N, Lambruschini N, Campistol J, Ugarte D, Vilaseca MA. Artuch R, et al. Among authors: campistol j. Clin Biochem. 2004 Mar;37(3):198-203. doi: 10.1016/j.clinbiochem.2003.10.017. Clin Biochem. 2004. PMID: 14972641
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
Pérez-Dueñas B, Vilaseca MA, Mas A, Lambruschini N, Artuch R, Gómez L, Pineda J, Gutiérrez A, Mila M, Campistol J. Pérez-Dueñas B, et al. Among authors: campistol j. Clin Biochem. 2004 Dec;37(12):1083-90. doi: 10.1016/j.clinbiochem.2004.09.005. Clin Biochem. 2004. PMID: 15589814 Clinical Trial.
Characterization of tremor in phenylketonuric patients.
Pérez-Dueñas B, Valls-Solé J, Fernández-Alvarez E, Conill J, Vilaseca MA, Artuch R, Campistol J. Pérez-Dueñas B, et al. Among authors: campistol j. J Neurol. 2005 Nov;252(11):1328-34. doi: 10.1007/s00415-005-0860-6. Epub 2005 Jul 5. J Neurol. 2005. PMID: 15995796
831 results