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Page 1
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P. Bravo-Alonso I, et al. J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811. J Clin Med. 2019. PMID: 31683770 Free PMC article.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Navarrete R, Leal F, Vega AI, Morais-López A, Garcia-Silva MT, Martín-Hernández E, Quijada-Fraile P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García-Campos O, Bueno-Delgado M, Delgado-Pecellín C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat LR, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B. Navarrete R, et al. Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-0330-0. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626930 Free PMC article.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C. Martín-Hernández E, et al. Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4. Orphanet J Rare Dis. 2014. PMID: 25433810 Free PMC article.
[A regenerative anemia in infants: 2 cases of Pearson´s syndrome].
Martínez de Zabarte Fernández JM, Rodríguez-Vigil Iturrate C, Martínez Faci C, García Jiménez I, Murillo Sanjuan L, Muñoz Mellado A. Martínez de Zabarte Fernández JM, et al. Arch Argent Pediatr. 2017 Feb 1;115(1):e24-e27. doi: 10.5546/aap.2017.e24. Arch Argent Pediatr. 2017. PMID: 28097850 Free article. Spanish.
[Hyperinsulinemic hypoglycemia: a study of four cases].
Féliz-De Vargas Pastor J, García Jiménez I, Sánchez Miramón F, García López P, Uriel Miñana P, Baldellou Vázquez A, Rebaje Moise V. Féliz-De Vargas Pastor J, et al. An Esp Pediatr. 1993 Dec;39(6):507-11. An Esp Pediatr. 1993. PMID: 8166405 Spanish.
[Calcifications in cranial CT scan, hypopigmented macula… What is it?].
Rubio Sánchez P, García Jiménez I, López Pisón J. Rubio Sánchez P, et al. Among authors: garcia jimenez i. An Pediatr (Engl Ed). 2022 Aug;97(2):143-145. doi: 10.1016/j.anpedi.2021.04.016. Epub 2021 Jun 3. An Pediatr (Engl Ed). 2022. PMID: 34092501 Free article. Spanish. No abstract available.
[Infant with intracranial calcifications and retinopathy].
Hidalgo-Sanz J, Perez-Delgado R, Garcia-Jimenez I, Lopez-Pison J, Castillo-Castejon O, Poch ML, Izquierdo-Alvarez S. Hidalgo-Sanz J, et al. Rev Neurol. 2019 Oct 1;69(7):289-292. doi: 10.33588/rn.6907.2019166. Rev Neurol. 2019. PMID: 31559627 Free article. Spanish.
33 results