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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: barba romero ma. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Carrasco-Rozas A, Fernández-Simón E, Lleixà MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nuñez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group; Díaz-Manera J, Gallardo E. Carrasco-Rozas A, et al. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12. Ann Clin Transl Neurol. 2019. PMID: 31353854 Free PMC article. Clinical Trial.
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M, Díaz-Manera J. Fernández-Simón E, et al. Among authors: barba romero ma. Mol Genet Metab. 2019 Sep-Oct;128(1-2):129-136. doi: 10.1016/j.ymgme.2019.07.013. Epub 2019 Jul 23. Mol Genet Metab. 2019. PMID: 31378569 Clinical Trial.
Clinical guidelines for late-onset Pompe disease.
Barba-Romero MA, Barrot E, Bautista-Lorite J, Gutierrez-Rivas E, Illa I, Jimenez LM, Ley-Martos M, Lopez de Munain A, Pardo J, Pascual-Pascual SI, Perez-Lopez J, Solera J, Vilchez-Padilla JJ. Barba-Romero MA, et al. Rev Neurol. 2012 Apr 16;54(8):497-507. Rev Neurol. 2012. PMID: 22492103 Free article. Review. English, Spanish.
Screening for late-onset Pompe disease in Internal Medicine departments in Spain.
López-Rodríguez M, Torralba-Cabeza MA, de Pedro IP, Rivera A, Gil RS, Gómez-Belda A, de la Peña JLP, de Los Santos Moreno A, Selva-O'Callaghan A, Gárate IG, García AG, Hurtado R, de Ureta PT, Barba-Romero MÁ, Milisenda JC, Grau-Junyent JM; POMPE study group. López-Rodríguez M, et al. Among authors: barba romero ma. Orphanet J Rare Dis. 2023 Aug 31;18(1):256. doi: 10.1186/s13023-023-02887-z. Orphanet J Rare Dis. 2023. PMID: 37653444 Free PMC article.
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: barba romero ma. 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
Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up.
Perez de Isla L, Alonso R, Watts GF, Mata N, Saltijeral Cerezo A, Muñiz O, Fuentes F, Diaz-Diaz JL, de Andrés R, Zambón D, Rubio-Marin P, Barba-Romero MA, Saenz P, Sanchez Muñoz-Torrero JF, Martinez-Faedo C, Miramontes-Gonzalez JP, Badimón L, Mata P; SAFEHEART Investigators. Perez de Isla L, et al. J Am Coll Cardiol. 2016 Mar 22;67(11):1278-85. doi: 10.1016/j.jacc.2016.01.008. J Am Coll Cardiol. 2016. PMID: 26988947 Free article.
32 results