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Leigh syndrome associated with TRMU gene mutations.
Sala-Coromina J, Miguel LD, de Las Heras J, Lasa-Aranzasti A, Garcia-Arumi E, Carreño L, Arranz JA, Carnicer C, Unceta-Suárez M, Sanchez-Montañez A, Gort L, Tort F, Del Toro M. Sala-Coromina J, et al. Among authors: de las heras j. Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33365252 Free PMC article.
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Martínez Chicano D, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Vitoria Miñana I, de Las Heras J. Cano A, et al. Among authors: de las heras j. J Clin Med. 2021 Jun 30;10(13):2932. doi: 10.3390/jcm10132932. J Clin Med. 2021. PMID: 34208868 Free PMC article.
Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia.
Andrade F, Cano A, Unceta Suarez M, Arza A, Vinuesa A, Ceberio L, López-Oslé N, de Frutos G, López-Oceja R, Aznal E, González-Lamuño D, de Las Heras J. Andrade F, et al. Among authors: de las heras j, de frutos g. J Clin Med. 2021 Aug 19;10(16):3674. doi: 10.3390/jcm10163674. J Clin Med. 2021. PMID: 34441968 Free PMC article.
Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.
de Las Heras J, Cano A, Vinuesa A, Montes M, Unceta Suarez M, Arza A, Jiménez S, Vera E, Del Hoyo M, Gendive M, Aguirre L, Muñoz G, Fernández J, Ruiz-Espinoza C, Fernández MÁ, Galdeano JM, Rodríguez I, Román L, Rodríguez-Serna A, Loureiro B, Astigarraga I. de Las Heras J, et al. Children (Basel). 2021 Nov 9;8(11):1026. doi: 10.3390/children8111026. Children (Basel). 2021. PMID: 34828739 Free PMC article.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K. Muntau AC, et al. Among authors: de las heras j. Mol Genet Metab. 2019 May;127(1):1-11. doi: 10.1016/j.ymgme.2019.04.004. Epub 2019 Apr 26. Mol Genet Metab. 2019. PMID: 31103398 Free article. Review.
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.
Andrade F, Vitoria I, Martín Hernández E, Pintos-Morell G, Correcher P, Puig-Piña R, Quijada-Fraile P, Peña-Quintana L, Marquez AM, Villate O, García Silva MT, de Las Heras J, Ceberio L, Rodrigues E, Almeida Campos T, Yahyaoui R, Blasco J, Vives-Piñera I, Gil D, Del Toro M, Ruiz-Pons M, Cañedo E, Barba Romero MA, García-Jiménez MC, Aldámiz-Echevarría L. Andrade F, et al. Among authors: de las heras j. J Pharm Biomed Anal. 2019 Nov 30;176:112798. doi: 10.1016/j.jpba.2019.112798. Epub 2019 Aug 1. J Pharm Biomed Anal. 2019. PMID: 31394303
Vitamin C and folate status in hereditary fructose intolerance.
Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Chicano DM, Morales M, Pedrón-Giner C, Jáuregui EP, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Suarez MU, Miñana IV, de Las Heras J. Cano A, et al. Among authors: de las heras j. Eur J Clin Nutr. 2022 Dec;76(12):1733-1739. doi: 10.1038/s41430-022-01178-3. Epub 2022 Jul 19. Eur J Clin Nutr. 2022. PMID: 35854131 Free PMC article.
110 results