People / Staff

Juan Darío Ortigoza Escobar

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Publications

  • 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. Number of citations: 69

    [doi:10.1055/s-0037-1601449]

  • 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. Number of citations: 4

    [doi:10.1016/j.spen.2016.11.008]

  • 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. Number of citations: 53

    [doi:10.1016/j.mito.2016.04.001]

  • 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. Number of citations: 34

    [doi:10.1080/14737175.2016.1187562]

  • 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. Number of citations: 57

    [doi:10.1093/brain/awv342]

  • 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. Number of citations: 52

    [doi:10.1186/1750-1172-9-92]

  • Fernandez Diaz V, Ortigoza-Escobar JD, Noguera-Julian 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. Number of citations: 2

  • 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. Number of citations: 110

    [doi:10.1186/1471-2431-12-25]

  • Quiroz V, Alecu JE, Zubair U, Bernardi K, Zaman Z, Rong J, Tam A, Kunta A, Agianda HP, Battaglia N, Schmidt HJD, Resch D, Wyman N, Vogt LM, Uraba WB, Becker L, Kothur K, Gill D, Suarez B, Jofre JI, Arias C, Castiglioni C, da Silva Möller PD, Pinto Duarte AF, Eggers-Lisboa A, Ríos-Pohl L, Gonzalez-Ubilla M, Chaudhari C, Salazar-Villacorta A, Tian X, Dai L, Ding C, Zamani M, Nourbakhsh P, Shariati G, Pringsheim T, Lim WK, Bartolini E, Stamelou M, Bhatia P, Kruer MC, Desai S, Iype M, Necpál J, Crosiers D, Jones HF, Perez-Sanchez JR, Unal ED, Lopez-Ariztegui N, Kola S, Lin WS, Mansour AH, Triki CC, Fernández-Alvarez E, Roze E, Sahu J, Doja A, Nardocci N, Caputo D, Koy A, Bhate S, Kaliakatsos M, Robinson R, Hassell J, Pons R, Munchau A, Soliani L, Zea-Vera A, Tochen L, Morales-Briceño H, Dale RC, D'Gama A, Loddenkemper T, Pearl PL, Mohammad SS, Kurian MA, Gorodetsky C, Ortigoza-Escobar JD, Schierbaum L, Yang K and Ebrahimi-Fakhari D.

    Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

    BRAIN . : .

    [doi:10.1093/brain/awaf297]

  • Domínguez-Carral J, Reinhard C, Yoo J, Soliani L, Cif L and Ortigoza-Escobar JD.

    Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.

    Neuromodulation . : .

    [doi:10.1016/j.neurom.2025.05.005]