Publicacións en colaboración con investigadores/as de University College London (19)

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

    International Journal of Pharmaceutics, Vol. 657

2022

  1. Galactose epimerase deficiency: lessons from the GalNet registry

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

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

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

  4. 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

2018

  1. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)

    Journal of Inherited Metabolic Disease

  2. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)

    Journal of Inherited Metabolic Disease

  3. 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

2017

  1. Cost-effectiveness methods and newborn screening assessment

    Advances in Experimental Medicine and Biology (Springer New York LLC), pp. 267-281

2016

  1. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672

2015

  1. Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency

    Pediatrics, Vol. 136, Núm. 2, pp. e424-e432

  2. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (J Inherit Metab Dis, 10.1007/s10545-015-9839-3)

    Journal of Inherited Metabolic Disease

  3. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (J Inherit Metab Dis, 10.1007/s10545-015-9840-x)

    Journal of Inherited Metabolic Disease

  4. Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

  5. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1041-1057

  6. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1059-1074