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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: artuch r. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. 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: 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.
[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.
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].
Ormazabal A, García Cazorla A, Pérez Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández Alvarez E, Campistol J, Artuch R. Ormazabal A, et al. Among authors: artuch r. Med Clin (Barc). 2006 Jun 17;127(3):81-5. doi: 10.1157/13090262. Med Clin (Barc). 2006. PMID: 16827996 Spanish.
327 results