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837 results

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Page 1
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: campistol j. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 Free PMC 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
White matter alterations associated with chromosomal disorders.
García-Cazorla A, Sans A, Baquero M, García-Bargo MD, Arellano M, Poo P, Gean E, Campistol J. García-Cazorla A, et al. Among authors: campistol j. Dev Med Child Neurol. 2004 Mar;46(3):148-53. doi: 10.1017/s0012162204000271. Dev Med Child Neurol. 2004. PMID: 14995083 Free article.
Infectious acute hemicerebellitis.
García-Cazorla A, Oliván JA, Pancho C, Sans A, Boix C, Campistol J. García-Cazorla A, et al. Among authors: campistol j. J Child Neurol. 2004 May;19(5):390-2. doi: 10.1177/088307380401900514. J Child Neurol. 2004. PMID: 15224713 Review.
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.
837 results