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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. Rice GI, et al. Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10. Neuropediatrics. 2017. PMID: 28561207 Free PMC article.
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.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10. Brain. 2016. PMID: 26657515 Clinical Trial.
Ndufs4 related Leigh syndrome: A case report and review of the literature.
Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Mitochondrion. 2016. PMID: 27079373 Review.
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.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S. Knerr I, et al. J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177572 Free article.
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784
66 results