Publicacións en colaboración con investigadores/as de Hospital de Clínicas de Porto Alegre (20)

2024

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

    Frontiers in Genetics

  2. Factors Associated With Coronary Angiography Performed Within 6 Months of Randomization to the Conservative Strategy in the ISCHEMIA Trial

    Circulation: Cardiovascular Interventions, Vol. 17, Núm. 6, pp. 457-473

2023

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

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

2022

  1. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

    Journal of Pediatrics

2021

  1. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 5, pp. 1124-1135

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

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

  3. Glycogen storage disease type Ia: Current management options, burden and unmet needs

    Nutrients, Vol. 13, Núm. 11

  4. Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

    eLife, Vol. 10

2020

  1. Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

    Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108

2019

  1. Changing rate of serious infections in biologic-exposed rheumatoid arthritis patients. Data from South American registries BIOBADABRASIL and BIOBADASAR

    Clinical Rheumatology, Vol. 38, Núm. 8, pp. 2129-2139

  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. Rising rural body-mass index is the main driver of the global obesity epidemic in adults

    Nature

2018

  1. Contributions of mean and shape of blood pressure distribution to worldwide trends and variations in raised blood pressure: A pooled analysis of 1018 population-based measurement studies with 88.6 million participants

    International Journal of Epidemiology, Vol. 47, Núm. 3, pp. 872-883i

  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

2017

  1. Randomized comparison of liposomal amphotericin B versus placebo to prevent invasive mycoses in acute lymphoblastic leukaemia

    Journal of Antimicrobial Chemotherapy, Vol. 72, Núm. 8, pp. 2359-2367

  2. Worldwide trends in blood pressure from 1975 to 2015: a pooled analysis of 1479 population-based measurement studies with 19·1 million participants

    The Lancet, Vol. 389, Núm. 10064, pp. 37-55

  3. Worldwide trends in body-mass index, underweight, overweight, and obesity from 1975 to 2016: a pooled analysis of 2416 population-based measurement studies in 128·9 million children, adolescents, and adults

    The Lancet, Vol. 390, Núm. 10113, pp. 2627-2642

2016

  1. A century of trends in adult human height

    eLife, Vol. 5

  2. Trends in adult body-mass index in 200 countries from 1975 to 2014: A pooled analysis of 1698 population-based measurement studies with 19.2 million participants

    The Lancet, Vol. 387, Núm. 10026, pp. 1377-1396

2011

  1. International distribution and age estimation of the Portuguese BRCA2 c.156-157insAlu founder mutation

    Breast Cancer Research and Treatment, Vol. 127, Núm. 3, pp. 671-679