1 document found, page 1 of 1

Sort by Issue Date
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

Sitosterolemia In iberoamerican countries: 16 new cases and phenotype genotype ...

Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Medeiros, Ana Margarida; Graça, Rafael; Bañares, Virginia G.; Araujo, Maria Beatriz

Background: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature cardiovascular disease. As happens with familial hypercholesterolemia (FH), sitosterolemia is subdiagnosed and is frequently confounded with FH, resulting in inapp...

Date: 2025   |   Origin: Repositório Científico do Instituto Nacional de Saúde
More info.
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

1 Results

Queried text

Refine Results

Author





















Date


Document Type


Funding



Access rights


Resource


Subject