Personas / Equipo Humano

Juan Darío Ortigoza Escobar

Buscador de publicaciones

Publicaciones

  • 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

    [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. Nº de citas: 57

    [doi:10.1016/j.mito.2016.04.001]

  • 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: 58

    [doi:10.1093/brain/awv342]

  • 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: 42

    [doi:10.1080/14737175.2016.1187562]

  • 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: 53

    [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. Nº de citas: 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. Nº de citas: 110

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

  • Ramón-Gómez JL, de Felipe M, Balsells S, Martínez-Segura A, Ruiz C and Ortigoza-Escobar JD.

    Management of Movement Disorders in Chronic Neurological Conditions and Palliative Care: A Retrospective Cohort Study.

    PEDIATRIC NEUROLOGY . 179: 54-62.

    [doi:10.1016/j.pediatrneurol.2026.03.006]