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Page 1
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C. Martín-Rivada Á, et al. Among authors: stanescu s. JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281663 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. Among authors: stanescu s. 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.
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. Among authors: stanescu s. J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811. J Clin Med. 2019. PMID: 31683770 Free PMC article.
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
Stanescu S, Belanger-Quintana A, Alcalde Martin C, Pérez-Cerdá Silvestre C, Merinero Cortés B, Gonzalez Pérez B, Fernández García-Abril C, Arrieta Blanco F, Palacios Valverde E, Martínez-Pardo Casanova M. Stanescu S, et al. Case Rep Pediatr. 2020 Jul 14;2020:1370293. doi: 10.1155/2020/1370293. eCollection 2020. Case Rep Pediatr. 2020. PMID: 32733732 Free PMC article.
[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.].
Cambra Conejero A, Martínez Figueras L, Ortiz Temprado A, Blanco Soto P, Martín Rivada Á, Palomino Pérez L, Cañedo Villarroya E, Pedrón Giner C, Quijada Fraile P, Martín-Hernández E, García Silva MT, Chumillas Calzada S, Bellusci M, Belanger-Quintana A, Stanescu S, Martínez-Pardo Casanova M, Moráis López A, Bergua Martínez A, Ruiz-Salas P, Pérez González B, Ugarte M, Ruano MLF. Cambra Conejero A, et al. Among authors: stanescu s. Rev Esp Salud Publica. 2020 Dec 16;94:e202012185. Rev Esp Salud Publica. 2020. PMID: 33372917 Free article. Spanish.
[GLUT1 and COVID-19 deficiency syndrome].
Arrieta Blanco F, Bélanger Quintana A, Bengoa Rojano N, Stanescu S, MartinezPardo M. Arrieta Blanco F, et al. Among authors: stanescu s. Endocrinol Diabetes Nutr. 2021 Aug-Sep;68(7):514-515. doi: 10.1016/j.endinu.2020.07.001. Epub 2020 Sep 1. Endocrinol Diabetes Nutr. 2021. PMID: 34632289 Free PMC article. Spanish. No abstract available.
GLUT1 and COVID-19 deficiency syndrome.
Arrieta Blanco F, Bélanger Quintana A, Bengoa Rojano N, Stanescu S, Martinez Pardo M. Arrieta Blanco F, et al. Among authors: stanescu s. Endocrinol Diabetes Nutr (Engl Ed). 2021 Aug-Sep;68(7):514-515. doi: 10.1016/j.endien.2021.11.004. Epub 2021 Nov 18. Endocrinol Diabetes Nutr (Engl Ed). 2021. PMID: 34863417 No abstract available.
119 results