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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.
Three cases with L1 syndrome and two novel mutations in the L1CAM gene.
Marín R, Ley-Martos M, Gutiérrez G, Rodríguez-Sánchez F, Arroyo D, Mora-López F. Marín R, et al. Among authors: ley martos m. Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560-2. Epub 2015 May 7. Eur J Pediatr. 2015. PMID: 25948108
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. Among authors: ley martos m. J Inherit Metab Dis. 2023 Nov;46(6):1170-1185. doi: 10.1002/jimd.12667. Epub 2023 Sep 11. J Inherit Metab Dis. 2023. PMID: 37540500 Free PMC article.
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.
Ley-Martos M, Guerrero JM, Lucas-Javato M, Remón-García C, García-Lozano JR, Colón C, Crujeiras P, Rodrigues D, Paúl-Sánchez P, Macher HC. Ley-Martos M, et al. Medicine (Baltimore). 2018 Oct;97(42):e12872. doi: 10.1097/MD.0000000000012872. Medicine (Baltimore). 2018. PMID: 30335002 Free PMC article.
12 results