Publications en collaboration avec des chercheurs de Complexo Hospitalario Universitario de Santiago (8)

2022

  1. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

    International Journal of Molecular Sciences, Vol. 23, Núm. 21

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

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

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

  2. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11

  3. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

    European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562

2018

  1. Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

2015

  1. Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency

    Pediatrics, Vol. 136, Núm. 2, pp. e424-e432

2011

  1. Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

    Medicina Clinica, Vol. 137, Núm. 11, pp. 500-503