Publicacions
-
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 cites: 42
-
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 cites: 61
-
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 cites: 53
-
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 cites: 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 cites: 110
-
Xiol-Viñas C, Olival J, Martorell-Sampol L, Gómez-Chiari M and Ortigoza-Escobar JD.
Genotype-Driven MRI Re-evaluation Reveals Subtle PAFAH1B1-Related Lissencephaly.
JOURNAL OF CHILD NEUROLOGY . : .