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Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal.
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- Public Health Genomics, 2015, v. 18, n. 3, p. 139, doi. 10.1159/000373920
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- Article
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1817, doi. 10.1093/hmg/ddt573
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- Article
Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia.
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- PLoS ONE, 2022, v. 17, n. 6, p. 1, doi. 10.1371/journal.pone.0269713
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- Article
«Papa Bem»: investir na literacia em saúde para a prevenção da obesidade infantil.
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- Portuguese Journal of Public Health / Revista Portuguesa de Saúde Pública, 2015, v. 33, n. 1, p. 12, doi. 10.1016/j.rpsp.2015.01.002
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- Article
The Hypocholesterolemic Potential of the Edible Algae Fucus vesiculosus : Proteomic and Quantitative PCR Analysis.
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- Foods, 2023, v. 12, n. 14, p. 2758, doi. 10.3390/foods12142758
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- Article
Brown Algae Potential as a Functional Food against Hypercholesterolemia: Review.
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- Foods, 2021, v. 10, n. 2, p. 234, doi. 10.3390/foods10020234
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- Article
Immune cell changes in response to a swimming training session during a 24-h recovery period.
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- Applied Physiology, Nutrition & Metabolism, 2016, v. 41, n. 5, p. 476, doi. 10.1139/apnm-2015-0488
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- Article
The time is now: Achieving FH paediatric screening across Europe – The Prague Declaration.
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- GMS Health Innovation & Technologies, 2022, v. 16, p. 1, doi. 10.3205/hta000136
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- Article
Prevalence and risk factors of fatty liver in Portuguese adults.
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- European Journal of Clinical Investigation, 2020, v. 50, n. 6, p. 1, doi. 10.1111/eci.13235
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- Article
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.
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- Clinical Genetics, 2020, v. 97, n. 3, p. 457, doi. 10.1111/cge.13697
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- Article
Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112677
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- Article
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00417-9
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- Article
Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-83392-w
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- Article
Metabolic Dysfunction and Asthma: Current Perspectives.
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- Journal of Asthma & Allergy, 2020, v. 13, p. 237, doi. 10.2147/JAA.S208823
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- Article
Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes.
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- Biomedicines, 2021, v. 9, n. 9, p. 1219, doi. 10.3390/biomedicines9091219
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- Article
How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population: correlation with ultrasound.
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- Liver International, 2014, v. 34, n. 6, p. e111, doi. 10.1111/liv.12305
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- Article
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.
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- Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5160, doi. 10.3390/jcm12155160
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- Article
Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05063-8
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- Article
Hypercysteinemia, A Potential Risk Factor for Central Obesity and Related Disorders in Azores, Portugal.
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- Journal of Nutrition & Metabolism, 2019, p. 1, doi. 10.1155/2019/1826780
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- Article
Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 225, doi. 10.1034/j.1399-0004.1999.560308.x
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- Article
What Is the Role of the New Index Relative Fat Mass (RFM) in the Assessment of Nonalcoholic Fatty Liver Disease (NAFLD)?
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- Obesity Surgery, 2020, v. 30, n. 2, p. 560, doi. 10.1007/s11695-019-04213-8
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- Article
Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European health examination survey in Portugal.
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- Diabetology & Metabolic Syndrome, 2014, v. 6, n. 1, p. 1, doi. 10.1186/1758-5996-6-23
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- Article