Publications by the researcher in collaboration with M. Barreda Sánchez (6)

2023

  1. Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

2021

  1. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2019

  1. EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2016

  1. Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence

    Anales de Pediatria, Vol. 84, Núm. 2, pp. 114-115

  2. Porfiria aguda intermitente en población pediátrica de la región de Murcia: fenotipo y prevalencia

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 84, Núm. 2, pp. 114-115