Publicaciones en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (11)

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. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  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. Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers

    JIMD Reports (Springer), pp. 63-74

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

2010

  1. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series

    Molecular Genetics and Metabolism, Vol. 99, Núm. 4, pp. 358-366

2008

  1. Déficit del cofactor molibdeno como causa de encefalopatía epiléptica precoz

    Anales de Pediatria

1998

  1. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

    Neuromuscular Disorders, Vol. 8, Núm. 8, pp. 568-573