Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.

Buonuomo, Paola Sabrina

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. [electronic resource] - Atherosclerosis 07 2017 - 71-77 p. digital

Publication Type: Case Reports; Journal Article

1879-1484

10.1016/j.atherosclerosis.2017.05.002 doi


ATP Binding Cassette Transporter, Subfamily G, Member 5--genetics
ATP Binding Cassette Transporter, Subfamily G, Member 8--genetics
Anticholesteremic Agents--therapeutic use
Biomarkers--blood
Child
Child, Preschool
Cholesterol, LDL--blood
Codon, Nonsense
DNA Mutational Analysis--methods
Diet, Fat-Restricted
Ezetimibe--therapeutic use
Female
Genetic Predisposition to Disease
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Hypercholesterolemia--blood
Intestinal Diseases--blood
Lipid Metabolism, Inborn Errors--blood
Lipoproteins--genetics
Male
Phenotype
Phytosterols--adverse effects
Predictive Value of Tests
Severity of Illness Index
Treatment Outcome
Up-Regulation