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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.
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
Bélanger-Quintana A, Arrieta Blanco F, Barrio-Carreras D, Bergua Martínez A, Cañedo Villarroya E, García-Silva MT, Lama More R, Martín-Hernández E, López AM, Morales-Conejo M, Pedrón-Giner C, Quijada-Fraile P, Stanescu S, Casanova MM. Bélanger-Quintana A, et al. Among authors: stanescu s. Nutrients. 2022 Jul 2;14(13):2755. doi: 10.3390/nu14132755. Nutrients. 2022. PMID: 35807935 Free PMC article. Review.
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.
[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.
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Martín-Rivada Á, Cambra Conejero A, Martín-Hernández E, Moráis López A, Bélanger-Quintana A, Cañedo Villarroya E, Quijada-Fraile P, Bellusci M, Chumillas Calzada S, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruíz-Sala P, Ugarte M, Pérez González B, Pedrón-Giner C. Martín-Rivada Á, et al. Among authors: stanescu s. J Pediatr Endocrinol Metab. 2022 Sep 19;35(10):1223-1231. doi: 10.1515/jpem-2022-0340. Print 2022 Oct 26. J Pediatr Endocrinol Metab. 2022. PMID: 36112821
New variants in Spanish Niemann-Pick type c disease patients.
López de Frutos L, Cebolla JJ, Aldámiz-Echevarría L, de la Vega Á, Stanescu S, Lahoz C, Irún P, Giraldo P. López de Frutos L, et al. Among authors: stanescu s. Mol Biol Rep. 2020 Mar;47(3):2085-2095. doi: 10.1007/s11033-020-05308-7. Epub 2020 Feb 14. Mol Biol Rep. 2020. PMID: 32060698
22 results