Publicacions en què col·labora amb María Belén Pérez González (10)

2022

  1. Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2020

  1. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

    Human Mutation, Vol. 41, Núm. 7, pp. 1329-1338

  2. The Genetic Landscape and Epidemiology of Phenylketonuria

    American Journal of Human Genetics, Vol. 107, Núm. 2, pp. 234-250

2019

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

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

  2. 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

2017

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

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

2007

  1. BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor

    Clinica Chimica Acta, Vol. 380, Núm. 1-2, pp. 8-12

2005

  1. Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin

    Molecular Genetics and Metabolism, Vol. 86, Núm. SUPPL., pp. 61-66

2004

  1. Tetrahydrobiopterin responsiveness: Results of the BH 4 loading test in 31 Spanish PKU patients and correlation with their genotype

    Molecular Genetics and Metabolism, Vol. 83, Núm. 1-2, pp. 157-162