[Influence of the APOE genotypes in some atherosclerotic risk factors].

The aim of this work was to study the distribution of apolipoprotein E (APOE) genotypes and their association with some atherosclerotic risk factors, all of them modifiable: total, HDL and LDL cholesterol, triglycerides, systolic and diastolic blood pressure, BMI, waist circumference and smoking. The sample population was constituted of 672 healthy subjects recruited in the Lisbon area. Lipids were quantified by usual automatic enzymatic methods and the APOE genotypes performed in accordance with Hixson and Vernier.

APOE genotypes and dyslipidemias in a sample of the Portuguese population.

The objective of this work was to study the distribution of apolipoprotein E (APOE) genotypes in a sample of the Portuguese population, and its association with the dyslipidemias observed. Study participants were healthy users of local Public Health Laboratories in six regions of mainland Portugal (Porto, Vila Real, Viseu, Lisboa, Portalegre and Faro). A total of 779 men and 1153 women aged 15-74 years agreed to participate.

Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORES.

In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a "moderate rate of G6PD deficiency" (12.6% of the normal activity) according to WHO criteria.

Glucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype association.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. This deficiency in erythrocytes has a prevalence of 0.51 +/- 0.