Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. [electronic resource]
Producer: 20180129Description: 71-77 p. digitalISSN:- 1879-1484
- 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
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Publication Type: Case Reports; Journal Article
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