Publicacións en colaboración con investigadores/as de Hospital Vall d'Hebron (23)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

2022

  1. Perinatal palliative care

    Anales de Pediatria, Vol. 96, Núm. 1, pp. 60.e1-60.e7

  2. The Consensus Definition of Bronchopulmonary Dysplasia Is an Adequate Predictor of Lung Function at Preschool Age

    Frontiers in Pediatrics, Vol. 10

  3. The LINCE Project: A Pathway for Diagnosing NCL2 Disease

    Frontiers in Pediatrics, Vol. 10

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  2. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  3. Gene therapy for neuronopathic mucopolysaccharidoses: State of the art

    International Journal of Molecular Sciences, Vol. 22, Núm. 17

  4. Recommendations on the skills profile and standards of the neonatal transport system in Spain

    Anales de Pediatria, Vol. 94, Núm. 6, pp. 420.e1-420.e11

  5. Sedoanalgesia in neonatal units

    Anales de Pediatria, Vol. 95, Núm. 2, pp. 126.e1-126.e11

2020

  1. Home births: A growing phenomenon with potential risks

    Anales de Pediatria, Vol. 93, Núm. 4, pp. 266.e1-266.e6

2019

  1. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  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

2018

  1. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

    Molecular Genetics and Metabolism Reports, Vol. 15, pp. 116-120

  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

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

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

2017

  1. ¿Cuál es la nutrición que administramos a nuestros recién nacidos de muy bajo peso en las unidades neonatales?: Una encuesta nacional

    Nutricion Hospitalaria, Vol. 34, Núm. 5, pp. 1067-1072

2016

  1. Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study

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

  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

2015

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

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

2012

  1. Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

    Molecular Genetics and Metabolism, Vol. 106, Núm. 2, pp. 196-201