Publicacións en colaboración con investigadores/as de Charles University in Prague (27)

2021

  1. 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

  2. Erratum: Risk factors associated with adverse fetal outcomes in pregnancies affected by Coronavirus disease 2019 (COVID-19): A secondary analysis of the WAPM study on COVID-19 (Journal of Perinatal Medicine (2020) 48:9 (950-958) DOI: 10.1515/jpm-2020-0355)

    Journal of Perinatal Medicine

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

    Frontiers in Pediatrics, Vol. 9

  4. Maternal and perinatal outcomes of pregnant women with SARS-CoV-2 infection

    Ultrasound in Obstetrics and Gynecology, Vol. 57, Núm. 2, pp. 232-241

2020

  1. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Brain, Vol. 143, Núm. 10, pp. 2929-2944

  2. Global Perspectives on Immunization During Pregnancy and Priorities for Future Research and Development: An International Consensus Statement

    Frontiers in Immunology, Vol. 11

  3. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

  4. Quadrivalent Influenza Vaccine Prevents Illness and Reduces Healthcare Utilization Across Diverse Geographic Regions During Five Influenza Seasons: A Randomized Clinical Trial

    The Pediatric infectious disease journal, Vol. 39, Núm. 1, pp. e1-e10

  5. Risk factors associated with adverse fetal outcomes in pregnancies affected by Coronavirus disease 2019 (COVID-19): A secondary analysis of the WAPM study on COVID-19

    Journal of Perinatal Medicine, Vol. 48, Núm. 9, pp. 950-958

2019

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

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

  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. 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. Antivirals for influenza-Like Illness? A randomised Controlled trial of Clinical and Cost effectiveness in primary CarE (ALIC4 E): the ALIC4 E protocol

    BMJ open, Vol. 8, Núm. 7, pp. e021032

  2. 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

  3. 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

  4. 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. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48

  2. Persistence of immunity after vaccination with a capsular group B meningococcal vaccine in 3 different toddler schedules

    CMAJ, Vol. 189, Núm. 41, pp. E1276-E1285

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. Persistence of bactericidal antibodies after infant serogroup B meningococcal immunization and booster dose response at 12, 18 or 24 months of age

    Pediatric Infectious Disease Journal