6 documents found, page 1 of 1
Sleep habits and screen use in an adolescent population during the COVID-19 pan...
Vieira, Paula Manuel; Cascais, Inês; Alba, Diana; Bernardo, Ana; Faria, João; Feio, Ana; Paiva Coelho, Margarida; Ribeiro, Maria do Céu; Gomes, LúciaIntroduction: Screen use among adolescents has increased, with excessive screen time associated with poor sleep. Isolation due to the COVID-19 pandemic may have exacerbated these problems. This study aimed to characterize adolescents’ sleep and screen use behaviors during the COVID-19 pandemic lockdown. Methods: This was a multicenter, cross-sectional, descriptive study of adolescents aged 10 to 18 years evalua...
Congenital disorders of glycosylation
Mendes, Ana Raquel; Quelhas, Dulce; Correia, Joana; Paiva Coelho, Margarida; Bandeira, Anabela; Martins, EsmeraldaCongenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but some types follow an autosomal dominant or X-linked inheritance. The present work aimed to review the state of the art of congenital disorders of glycosylation...
Congenital disorders of glycosylation
Mendes, Ana Raquel; Quelhas, D; Correia, Joana; Paiva Coelho, Margarida; Bandeira, Anabela; Martins, EsmeraldaCongenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but some types follow an autosomal dominant or X-linked inheritance. The present work aimed to review the state of the art of congenital disorders of glycosylation...
Genes, Children and Pediatricians
Paiva Coelho, Margarida; Soares, Ana Rita; Magalhães, Catarina; Vide, Ana Teresa; Martins, Esmeralda
Pulsatile Occipital Mass in a 2-Year-Old Male
Paiva Coelho, Margarida; Figueiredo, Sara
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a...
Paiva Coelho, Margarida; Martins, Esmeralda; Vilarinho, LauraPrimary mitochondrial disorders are highly variable in clinical presentation, biochemistry, and molecular etiology. Mitochondrial disorders can be caused by genetic defects in the mitochondrial, in nuclear genome, or in the interplay between the two genomes. Biochemical screening tests may be inconclusive or misleading since patients, with confirmed mitochondrial disorders specially in pediatric age, may exhibi...