Publikationen in Zusammenarbeit mit Forschern von Instituto de Investigación Sanitaria del Hospital Universitario La Paz (8)

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

2021

  1. Long-term follow-up with filter paper samples in patients with propionic acidemia

    JIMD Reports, Vol. 57, Núm. 1, pp. 44-51

  2. Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

    Orphanet Journal of Rare Diseases

2020

  1. 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