Publikationen in Zusammenarbeit mit Forschern von Universidade de Lisboa (39)

2024

  1. Agreement between local and central anti-synthetase antibodies detection: results from the Classification Criteria of Anti-Synthetase Syndrome project biobank

    Clinical and experimental rheumatology, Vol. 42, Núm. 2, pp. 277-287

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

    Frontiers in Genetics

  3. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

    Orphanet Journal of Rare Diseases , Vol. 19, Núm. 1

2023

  1. Addressing influenza’s underestimated burden – Iberian experts call to action

    BMC Infectious Diseases

  2. Diminishing benefits of urban living for children and adolescents’ growth and development

    Nature, Vol. 615, Núm. 7954, pp. 874-883

  3. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  4. Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

    Nutrients, Vol. 15, Núm. 18

  5. Factors Associated with Underreporting of Adverse Drug Reactions by Health Care Professionals: A Systematic Review Update

    Drug Safety, Vol. 46, Núm. 7, pp. 625-636

  6. Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c

    Nature Medicine, Vol. 29, Núm. 11, pp. 2885-2901

  7. Portuguese Heart Failure Prevalence Observational Study (PORTHOS) rationale and design – A population-based study

    Revista Portuguesa de Cardiologia, Vol. 42, Núm. 12, pp. 985-995

2022

  1. Global, regional, and national disease burden estimates of acute lower respiratory infections due to respiratory syncytial virus in children younger than 5 years in 2019: a systematic analysis

    The Lancet, Vol. 399, Núm. 10340, pp. 2047-2064

  2. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

    Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 114-126

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  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. Feasibility and acceptability of an asthma app to monitor medication adherence: Mixed methods study

    JMIR mHealth and uHealth, Vol. 9, Núm. 5

  4. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

  5. Positive and negative experiences of caregiving in dementia: The role of sense of coherence

    International Journal of Geriatric Psychiatry, Vol. 36, Núm. 2, pp. 360-367

  6. Profiling persistent asthma phenotypes in adolescents: A longitudinal diagnostic evaluation from the inspirers studies

    International Journal of Environmental Research and Public Health, Vol. 18, Núm. 3, pp. 1-11

  7. Validation of app and phone versions of the control of allergic rhinitis and asthma test (Carat)

    Journal of Investigational Allergology and Clinical Immunology

2020

  1. Levosimendan Efficacy and Safety: 20 Years of SIMDAX in Clinical Use

    Journal of cardiovascular pharmacology, Vol. 76, Núm. 1, pp. 4-22