TY  - GEN
AU  - Buonuomo,Paola Sabrina
AU  - Iughetti,Lorenzo
AU  - Pisciotta,Livia
AU  - Rabacchi,Claudio
AU  - Papadia,Francesco
AU  - Bruzzi,Patrizia
AU  - Tummolo,Albina
AU  - Bartuli,Andrea
AU  - Cortese,Claudio
AU  - Bertolini,Stefano
AU  - Calandra,Sebastiano
TI  - Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia
SN  - 1879-1484
PY  - 2018///0129
KW  - ATP Binding Cassette Transporter, Subfamily G, Member 5
KW  - genetics
KW  - ATP Binding Cassette Transporter, Subfamily G, Member 8
KW  - Anticholesteremic Agents
KW  - therapeutic use
KW  - Biomarkers
KW  - blood
KW  - Child
KW  - Child, Preschool
KW  - Cholesterol, LDL
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - methods
KW  - Diet, Fat-Restricted
KW  - Ezetimibe
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Hypercholesterolemia
KW  - Intestinal Diseases
KW  - Lipid Metabolism, Inborn Errors
KW  - Lipoproteins
KW  - Male
KW  - Phenotype
KW  - Phytosterols
KW  - adverse effects
KW  - Predictive Value of Tests
KW  - Severity of Illness Index
KW  - Treatment Outcome
KW  - Up-Regulation
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.atherosclerosis.2017.05.002
ER  -