Ley Martos M - Search Results

1

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.

2

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.

Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R. Bellusci M, et al. Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590. Genes (Basel). 2021. PMID: 34680984 Free PMC article.

3

Lipomatous atrial septal hypertrophy associated with adrenocorticotropin hormone administration in an infant with West syndrome.

Rodriguez-Gonzalez M, Cascales-Poyatos HM, Castellano-Martinez A, Ley-Martos M, Perez-Reviriego AA. Rodriguez-Gonzalez M, et al. Among authors: ley martos m. Cardiol Young. 2021 Apr;31(4):682-684. doi: 10.1017/S1047951120004679. Epub 2021 Jan 5. Cardiol Young. 2021. PMID: 33399035

4

A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome.

Ley Martos M, Salado Reyes MJ, Marín Iglesias R, Gutiérrez Moro C, Lubián Gutiérrez M, Estepa Pedregosa L. Ley Martos M, et al. J Mov Disord. 2020 Sep;13(3):229-231. doi: 10.14802/jmd.19071. Epub 2020 Jul 14. J Mov Disord. 2020. PMID: 32654475 Free PMC article. No abstract available.

5

Pediatric miliary tuberculosis presenting with stroke: contribution to the paper "Tuberculosis of the central nervous system in children".

Sánchez-Códez MI, Lubián-Gutiérrez M, Fernández-Bravo C, Ley-Martos M. Sánchez-Códez MI, et al. Among authors: ley martos m. Childs Nerv Syst. 2019 Aug;35(8):1273-1275. doi: 10.1007/s00381-019-04270-5. Epub 2019 Jun 29. Childs Nerv Syst. 2019. PMID: 31256240 No abstract available.

6

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.

7

[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].

Ley-Martos M, Salado-Reyes MJ, Espinosa-Rosso R, Solera-García J, Jiménez-Jiménez L. Ley-Martos M, et al. Rev Neurol. 2015 Nov 1;61(9):416-20. Rev Neurol. 2015. PMID: 26503317 Free article. Spanish.

8

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

9

[Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity].

Tomás-Vila M, Menor F, Ley-Martos M, Jumillas-Luján MJ, Marco-Hernández AV, Barbero P. Tomás-Vila M, et al. Among authors: ley martos m. Rev Neurol. 2014 Feb 16;58(4):161-5. Rev Neurol. 2014. PMID: 24504878 Free article. Spanish.

10

Infant botulism in Andalusia (Southern Spain).

López-Laso E, Roncero-Sánchez-Cano I, Arce-Portillo E, Ley-Martos M, Aguirre-Rodríguez J, García-Ron A, Mora-Navarro D, Méndez-García M, Camino-León R. López-Laso E, et al. Among authors: ley martos m. Eur J Paediatr Neurol. 2014 May;18(3):321-6. doi: 10.1016/j.ejpn.2013.12.008. Epub 2014 Jan 15. Eur J Paediatr Neurol. 2014. PMID: 24468429

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