3 documents found, page 1 of 1
Rare Primary Dyslipidaemias Associated with Low LDL and HDL Cholesterol Values ...
Alves, AC; Miranda, B; Moldovan, O; Espírito Santo, R; Gouveia Silva, R; Soares Cardoso, S; Diogo, L; Seidi, M; Sequeira, S; Bourbon, MBackground: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different ma...
Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético
Martins, R; Moldovan, O; Sousa, AB; Levy, A; Quintas, SINTRODUCTION: Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm. However, there are no international guidelines regarding the diagnosis of genetic epilept...
Recommendations for genetic testing in cardiology: Review of major internationa...
Sousa, A; Moldovan, O; Lebreiro, A; Bourbon, M; António, N; Rato, Q; Rodrigues, P; Toste, A; Gonçalves Rocha, M; Oliveira, R; Granja, S; Cruz, CIn recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes ...