Hospital Regional Universitario de Málaga-ko ikertzaileekin lankidetzan egindako argitalpenak (8)

2023

  1. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

  1. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

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

2019

  1. 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. Estudio multicéntrico español: Niños con hiperamoniemia no asociada a errors innatos del metabolismo

    Nutricion Hospitalaria, Vol. 34, Núm. 4, pp. 814-819

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

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