A5037922892- Glycosylation and Glycoproteins Research
- Lysosomal Storage Disorders Research
- Genomics and Rare Diseases
- Galectins and Cancer Biology
- Carbohydrate Chemistry and Synthesis
- Fermentation and Sensory Analysis
- Immunodeficiency and Autoimmune Disorders
- Horticultural and Viticultural Research
- Acute Lymphoblastic Leukemia research
- Social Media in Health Education
- Infant Nutrition and Health
- Plant Water Relations and Carbon Dynamics
- Plant biochemistry and biosynthesis
- Pancreatic function and diabetes
- Genomics and Phylogenetic Studies
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Click Chemistry and Applications
- Child and Adolescent Psychosocial and Emotional Development
- Endoplasmic Reticulum Stress and Disease
- vaccines and immunoinformatics approaches
- Genomic variations and chromosomal abnormalities
- Ferrocene Chemistry and Applications
- Calcium signaling and nucleotide metabolism
- Botanical Research and Applications
Universidade Nova de Lisboa
2014-2024
Centro Hospitalar de Lisboa Central
2024
University of Lisbon
2019-2023
Unidade em Ciências Biomoleculares Aplicadas
2022
Portuguese League Against Epilepsy
2018-2021
University of Perugia
2020
Universidade Católica Portuguesa
2020
Universitat de Miguel Hernández d'Elx
2020
University of Minho
2015-2019
Instituto de Tecnología Química
2009
Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances treatment have improved the life expectancy of IMD patients over last decades, with majority now surviving beyond age 20. This has created a new challenge: as they grow up, care patients' needs to be transferred from metabolic pediatricians physicians specialized treating adults, through process called “transition.” The purpose this study was assess how...
// Sara Alves 1 , Lisandra Castro Maria Sofia Fernandes 3 Rita Francisco Paula Muriel Priault 2 Susana Rodrigues Chaves Mary Pat Moyer 4 Carla Oliveira Raquel Seruca Manuela Côrte-Real João Sousa 1, * Ana Preto CBMA - Centre of Molecular and Environmental Biology, Department University Minho, Campus de Gualtar, 4710-057 Braga, Portugal CNRS, UMR5095, Bordeaux 2, Bordeaux, France IPATIMUP Institute Pathology Immunology the Porto, Instituto Investigação e...
Abstract Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group about 170 rare inherited metabolic due to defective protein lipid glycosylation. This study aimed assemble summarise available data on the epidemiology CDG. Methods A set keywords related CDG was defined. The were combined through custom Python script, search MEDLINE database, using PubMed as engine. script retrieved correspondent from each article, relevant information exported. Next,...
The study of changes within the key agents regulating metabolism during genetic upgrading because selection can contribute to an improved understanding genomic and physiological relationships. This may lead increased efficiencies in animal production. These changes, regarding energy protein metabolic saving mechanisms, be highlighted food restriction periods. In this study, a 20% weight reduction was induced two rabbit breeds: New Zealand white, selected meat producer (Oryctolagus cuniculus...
The interaction between enzymatic and non-enzymatic antioxidants, endogenous levels of ABA ABA-GE, the rapid recuperation photosynthetic proteins under re-watering as well high level antioxidant in previously drought-stressed plants conditions, will contribute to drought resistance subjected a long-term stress Mediterranean field conditions. This work provides an overview mechanisms Cistus albidus acclimation summer followed by To better understand molecular these plants, proteomic study...
Medicago truncatula is a model legume, whose genome currently being sequenced. Somatic embryogenesis (SE) genotype‐dependent character and not yet fully understood. In this study, proteomic approach was used to compare the induction expression phases of SE both highly embryogenic line M9‐10a M. cv. Jemalong its non‐embryogenic predecessor line, M9. The statistical analysis between lines revealed 136 proteins with significant differential ( P < 0.05). Of these, 5 had presence/absence...
Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack robust data. To better characterize immune-related manifestations’ prevalence, relevance, quality-of-life (QoL) impact, we developed electronic questionnaires targeting (1) CDG patients (2) the general “healthy” population. Two-hundred nine patients/caregivers 349 healthy participants were included this...
Subdural empyema (SDE) is a rare form of intracranial infection associated with high morbidity and mortality rate. Infections the middle ear paranasal sinuses are most common predisposing factors that can lead to bacterial proliferation in subdural space, usually by direct extension young patients. Clinicians must have level suspicion for patients presenting concomitant neurological deficits signs sinus pathology. Cross-sectional imaging mandatory diagnosis, preferably contrast-enhanced...
Glycosylation is a critical post-translational modification that plays pivotal role in several biological processes, such as the immune response. Alterations glycosylation can modulate course of various pathologies, case congenital disorders (CDG), group more than 160 rare and complex genetic diseases. Although link between dysfunction has already been recognized, involvement most CDG remains largely unexplored poorly understood. In this study, we provide an update on clinical manifestations...