Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene...

Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is...

Excess Mortality since COVID-19: What Data Do We Need and What Questions Should We Ask to Understand...

Excess mortality is occurring since the beginning of the COVID-19 pandemic across Europe and around the world, and it entails both COVID and non-COVID excess mortality...

The Importance of Promoting and Clarifying the Community Use of the New Therapeutic Weapons against ...

O artigo “Protocolo Intra-Hospitalar para Abordagem da Doença COVID-19 no Adulto”, publicado em julho de 2022, veio dar resposta à necessidad...

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Pop...

Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme defect in the world, affecting more than 500 million peopl...

Portuguese Cross-Cultural Adaptations of the Pediatric International Knee Documentation Committee Sc...

Introduction: The aim of this study was to translate the Pediatric International Knee Documentation Committee Score (Pedi-IKDC) into European Portugue...

Inflammation of BCG Inoculation Site Scar after the First Dose of an Anti-SARS-CoV-2 mRNA Vaccine...

Inflammatory reactions in the Bacillus Calmette-Guérin (BCG) inoculation scar site have been previously described, in association with viral infections. The inf...