Publicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (30)

2024

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

    Frontiers in Genetics

2022

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

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

2021

  1. Extremely Preterm Infant Admissions Within the SafeBoosC-III Consortium During the COVID-19 Lockdown

    Frontiers in Pediatrics, Vol. 9

2020

  1. Holistic approach of the care of the infant with hypoxic-ischaemic encephalopathy in Spain

    Anales de Pediatria, Vol. 92, Núm. 5, pp. 286-296

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

  2. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

  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. Protocolo de diagnóstico y tratamiento de las deficiencias de la β-oxidación mitocondrial de los ácidos grasos

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 43-66

  4. Protocolo de diagnóstico, tratamiento y seguimiento de la aciduria glutárica tipo I

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 205-218

  5. Transición desde la asistencia pediátrica a la adulta en pacientes con mucopolisacaridosis

    Revista Clinica Espanola, Vol. 218, Núm. 1, pp. 17-21

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

  2. Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

    Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7

  3. Vertically transmitted cytomegalovirus infection in newborn preterm infants

    Journal of Perinatal Medicine, Vol. 44, Núm. 5, pp. 485-490

2015

  1. 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

  2. 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

  3. Manejo de la sedación y la analgesia en unidades de cuidados intensivos neonatales españolas

    Anales de Pediatria, Vol. 83, Núm. 2, pp. 75-84

  4. 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