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[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. Med Clin (Barc). 2006 Jun 17;127(3):81-5. doi: 10.1157/13090262. Med Clin (Barc). 2006. PMID: 16827996 Spanish.
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
Ortigoza-Escobar JD, Serrano M, Molero M, Oyarzabal A, Rebollo M, Muchart J, Artuch R, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Orphanet J Rare Dis. 2014 Jun 23;9:92. doi: 10.1186/1750-1172-9-92. Orphanet J Rare Dis. 2014. PMID: 24957181 Free PMC article.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.
Treatment of genetic defects of thiamine transport and metabolism.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Expert Rev Neurother. 2016 Jul;16(7):755-63. doi: 10.1080/14737175.2016.1187562. Epub 2016 May 23. Expert Rev Neurother. 2016. PMID: 27191787 Review.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza Escobar JD, Martí Sánchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras Pallejà D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez Dueñas B. Darling A, et al. Mov Disord. 2017 Nov;32(11):1620-1630. doi: 10.1002/mds.27129. Epub 2017 Aug 28. Mov Disord. 2017. PMID: 28845923 Free article.
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
Serrano NL, De Diego V, Cuadras D, Martinez Monseny AF, Velázquez-Fragua R, López L, Felipe A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M; CDG Spanish-Consortium. Serrano NL, et al. Orphanet J Rare Dis. 2017 Sep 15;12(1):155. doi: 10.1186/s13023-017-0707-0. Orphanet J Rare Dis. 2017. PMID: 28915903 Free PMC article.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B. Baide-Mairena H, et al. Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5. Mol Genet Metab. 2019. PMID: 30642748 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. 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
152 results