Publicacións en colaboración con investigadores/as de University College London (40)

2024

  1. 3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations

    Nutrients, Vol. 16, Núm. 1

  2. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

  3. Effectiveness and Safety of Direct-acting Antivirals for Treatment of Adolescents With HCV/HIV Coinfection: Real-world Data From Europe

    Pediatric Infectious Disease Journal, Vol. 43, Núm. 5, pp. E155-E159

  4. Integration and validation of host transcript signatures, including a novel 3-transcript tuberculosis signature, to enable one-step multiclass diagnosis of childhood febrile disease

    Journal of Translational Medicine, Vol. 22, Núm. 1

  5. Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders

    International Journal of Pharmaceutics, Vol. 657

2023

  1. Adeno-associated virus 2 infection in children with non-A–E hepatitis

    Nature, Vol. 617, Núm. 7961, pp. 555-563

  2. Genomic investigations of unexplained acute hepatitis in children

    Nature, Vol. 617, Núm. 7961, pp. 564-573

2022

  1. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

    Communications Biology, Vol. 5, Núm. 1

  2. Detection of Potential Arbovirus Infections and Pregnancy Complications in Pregnant Women in Jamaica Using a Smartphone App (ZIKApp): Pilot Evaluation Study

    JMIR Formative Research, Vol. 6, Núm. 7

  3. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

2021

  1. Archaeogenomic distinctiveness of the Isthmo-Colombian area

    Cell, Vol. 184, Núm. 7, pp. 1706-1723.e24

2020

  1. Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study

    Neurology, Vol. 95, Núm. 21, pp. E2866-E2879

  2. Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

    The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848

  3. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268

2019

  1. Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients

    International Journal of Pharmaceutics, Vol. 567

  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. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  4. The challenge of the laboratory diagnosis in a confirmed congenital Zika virus syndrome in utero: A case report

    Medicine, Vol. 98, Núm. 20, pp. e15532

  5. The natural history of classic galactosemia: Lessons from the GalNet registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  6. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106