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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. Among authors: artuch r. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093
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: artuch r. 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: artuch r. J Neurol. 2005 Nov;252(11):1328-34. doi: 10.1007/s00415-005-0860-6. Epub 2005 Jul 5. J Neurol. 2005. PMID: 15995796
[Inborn errors of neurotransmitters in neuropaediatrics].
García-Cazorla A, Ormazábal A, Artuch R, Pérez-Dueñas B, López-Casas J, Fernández-Alvarez E, Campistol J. García-Cazorla A, et al. Among authors: artuch r. Rev Neurol. 2005 Jul 16-31;41(2):99-108. Rev Neurol. 2005. PMID: 16028189 Free article. Review. Spanish.
328 results