3 documents found, page 1 of 1
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 BeatrizBackground: 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...
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Li...
de Las Heras, Javier; Almohalla, Carolina; Blasco-Alonso, Javier; Bourbon, Mafalda; Couce, Maria-Luz; de Castro López, María JoséLysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantil...
Endogenous calcification inhibitors in the prevention of vascular calcification...
Bäck, Magnus; Aranyi, Tamas; Cancela, M. Leonor; Carracedo, Miguel; Conceição, Natércia; Leftheriotis, Georges; Macrae, Vicky; Martin, LudovicThe physicochemical deposition of calcium-phosphate in the arterial wall is prevented by calcification inhibitors. Studies in cohorts of patients with rare genetic diseases have shed light on the consequences of loss-of-function mutations for different calcification inhibitors, and genetic targeting of these pathways in mice have generated a clearer picture on the mechanisms involved. For example, generalized a...