Publicaciones
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Ortigoza-Escobar JD, Alfadhel M, Molero M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch-Iriberri R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B and Marti-Sanchez L.
Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors
ANNALS OF NEUROLOGY . 82(3): 317-330. Nº de citas: 49
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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, Marti-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 and Crow YJ.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics . 48(3): 166-184. Nº de citas: 56
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Ortigoza-Escobar JD and Pérez-Dueñas B.
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 341-350. Nº de citas: 4
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Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P and Pérez-Dueñas B.
Ndufs4 related Leigh syndrome: A case report and review of the literature
Mitochondrion . 28: 73-78. Nº de citas: 46
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Ortigoza-Escobar JD, Molero M, Arias, A, Marti-Sanchez L, Rodriguez-Pombo, P, Artuch-Iriberri R and Pérez-Dueñas B.
Treatment of genetic defects of thiamine transport and metabolism
EXPERT REVIEW OF NEUROTHERAPEUTICS . 16(7): 755-763. Nº de citas: 30
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Ortigoza-Escobar JD, Molero M, Arias A, De Oyarzabal-Sanz AL, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado-Rio M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch-Iriberri R and Pérez-Dueñas B.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome
BRAIN . 139: 31-38. Nº de citas: 50
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Ortigoza-Escobar JD, Serrano M, Molero M, De Oyarzabal-Sanz AL, Rebollo M, Muchart-Lopez J, Artuch-Iriberri R, Rodríguez-Pombo P and Pérez-Dueñas B.
Thiamine transporter-2 deficiency: outcome and treatment monitoring
ORPHANET JOURNAL OF RARE DISEASES . 9: 92-92. Nº de citas: 47
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Fernandez Diaz V, Ortigoza-Escobar JD, Noguera-Julián A, Fortuny-Guasch C, Trenchs-Sainz de la Maza V and YOLANDA FERNÁNDEZ SANTERVAS.
Human immunodeficiency virus serology in a pediatric emergency department: reasons for ordering tests and the characteristics of positive cases
EMERGENCIAS . 25(4): 289-291. Nº de citas: 2
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Balaguer, Albert, Martín-Ancel A, Ortigoza-Escobar JD, Escribano, Joaquin and Argemi, Josep.
The model of Palliative Care in the perinatal setting: a review of the literature.
BMC PEDIATRICS . 12: 25-25. Nº de citas: 104
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
CLINICAL CHEMISTRY . : .