1. Tada H, Nomura A, Ogura M, Ikewaki K, Ishigaki Y, Inagaki K, et al. Diagnosis and Management of Sitosterolemia 2021. J Atheroscler Thromb. 2021; 28:791–801.
Article
2. Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab. 2016; 21:7–14.
Article
3. Lim JS, Kim EY, Kim JH, Yoo JH, Yi KH, Chae HW, et al. 2017 Clinical practice guidelines for dyslipidemia of Korean children and adolescents. Ann Pediatr Endocrinol Metab. 2020; 25:199–207.
Article
4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17:405–24.
Article
5. Tada H, Kojima N, Yamagami K, Takamura M, Kawashiri MA. Clinical and genetic features of sitosterolemia in Japan. Clin Chim Acta. 2022; 530:39–44.
Article
6. Keller S, Prechtl D, Aslanidis C, Ceglarek U, Thiery J, Schmitz G, et al. Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report. Eur J Med Genet. 2011; 54:e458–60.
Article
7. Mekchay P, Ittiwut C, Ittiwut R, Akkawat B, Le Grand SM, Leela-Adisorn N, et al. Whole exome sequencing for diagnosis of hereditary thrombocytopenia. Medicine (Baltimore). 2020; 99:e23275.
Article
8. Xu L, Wen W, Yang Y, Xie J, Li R, Wu Y, et al. Features of Sitosterolemia in Children. Am J Cardiol. 2020; 125:1312–6.
Article
9. Lee JH, Song DY, Jun SH, Song SH, Shin CH, Ki CS, et al. High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence. PLoS One. 2020; 15:e0238079.
Article
10. Park JH, Chung IH, Kim DH, Choi MH, Garg A, Yoo EG. Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. J Clin Endocrinol Metab. 2014; 99:1512–8.
Article