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Page 1
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R. Batllori M, et al. Among authors: pons r. Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8. Sci Rep. 2017. PMID: 29116116 Free PMC article.
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.
Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal A, Garzía-Cazorla A, Serrano M, Artuch R. Pons R, et al. Mov Disord. 2013 Jul;28(8):1058-63. doi: 10.1002/mds.25382. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23389938
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
Molero-Luis M, Serrano M, Ormazábal A, Pérez-Dueñas B, García-Cazorla A, Pons R, Artuch R; Neurotransmitter Working Group. Molero-Luis M, et al. Among authors: pons r. Dev Med Child Neurol. 2013 Jun;55(6):559-66. doi: 10.1111/dmcn.12116. Epub 2013 Mar 11. Dev Med Child Neurol. 2013. PMID: 23480488 Free article.
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.
Ortez C, Duarte ST, Ormazábal A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Álvarez E, Domingo-Jiménez R, De Castro P, Artuch R, García-Cazorla A. Ortez C, et al. Among authors: pons r. Mol Genet Metab. 2015 Jan;114(1):34-40. doi: 10.1016/j.ymgme.2014.10.014. Epub 2014 Oct 31. Mol Genet Metab. 2015. PMID: 25468651 Free article.
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
Opladen T, Cortès-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla À; International Working Group on Neurotransmitter related disorders (iNTD). Opladen T, et al. Among authors: pons r. Mol Genet Metab Rep. 2016 Oct 20;9:61-66. doi: 10.1016/j.ymgmr.2016.09.006. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27830117 Free PMC article.
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Among authors: pons r. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SKH, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian MA, Steel D, Manti F, Meeks KD, Jeltsch K, Flint L. Pearson TS, et al. Among authors: pons r. J Inherit Metab Dis. 2020 Sep;43(5):1121-1130. doi: 10.1002/jimd.12247. Epub 2020 May 14. J Inherit Metab Dis. 2020. PMID: 32369189 Free PMC article.
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: pons 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.
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: pons 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
279 results