Publicaciones en colaboración con investigadoras/es de Universidade de Santiago de Compostela (14)

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

  2. Pharmacokinetic Evaluation of New Drugs Using a Multi-Labelling Approach and PET Imaging: Application to a Drug Candidate with Potential Application in Neuromuscular Disorders

    Biomedicines, Vol. 11, Núm. 2

2022

  1. Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood

    eLife, Vol. 11

  2. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  3. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

2020

  1. Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17

2017

  1. Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

2012

  1. Follow-up of the small-for-gestational-age child: Clinical guidelines

    Anales de Pediatria, Vol. 76, Núm. 2

2011

  1. Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211

2010

  1. The genomics serving pediatrics in the investigation of the multifactorial disease

    Acta Pediatrica Espanola, Vol. 68, Núm. 2, pp. 55-60

  2. Update of knowledge, recommendations and full consensus about the role of long chain polyunsaturated fatty acids in pregnancy, lactating period and first year of life

    Medicina Clinica, Vol. 135, Núm. 2, pp. 75-82

2007

  1. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373

1998

  1. Application and performance of the Meatspec for cheese analysis

    MILCHWISSENSCHAFT-MILK SCIENCE INTERNATIONAL, Vol. 53, Núm. 9, pp. 503-505