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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. 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.
Use of carglumic acid in valproate-induced hyperammonemia: 25 pediatric cases.
Palomino Pérez LM, Martín-Rivada Á, Cañedo Villaroya E, García-Peñas JJ, Cuervas-Mons Vendrell M, Pedrón-Giner C. Palomino Pérez LM, et al. JIMD Rep. 2020 Jun 11;55(1):3-11. doi: 10.1002/jmd2.12131. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905024 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. Rev Esp Salud Publica. 2020 Dec 16;94:e202012185. Rev Esp Salud Publica. 2020. PMID: 33372917 Free article. Spanish.
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. 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
Carbohydrate metabolism impairment in children and adolescents with cystic fibrosis.
Escudero García J, Martín Rivada Á, Uribe Posada A, Sanz Santiago V, Argente J, Martos-Moreno GÁ. Escudero García J, et al. Among authors: martin rivada a. Endocrinol Diabetes Nutr (Engl Ed). 2022 Oct;69(8):576-583. doi: 10.1016/j.endien.2021.08.009. Epub 2022 Nov 5. Endocrinol Diabetes Nutr (Engl Ed). 2022. PMID: 36347795
28 results