{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:12:01Z","timestamp":1785496321024,"version":"3.56.0"},"reference-count":51,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:00:00Z","timestamp":1736208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012046","name":"Vietnam Academy of Science and Technology","doi-asserted-by":"publisher","award":["CSCL40.01\/24-25"],"award-info":[{"award-number":["CSCL40.01\/24-25"]}],"id":[{"id":"10.13039\/100012046","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death during childhood. It results from homozygous or compound heterozygous pathogenic variants in the ABCG5 or ABCG8 genes. Prompt detection and intervention are essential to managing this condition and preventing severe outcomes. Methods: This study aims to retrospectively analyze the phenotype, genotype, treatment, and outcomes of 14 children\u2014seven boys and seven girls\u2014all of Vietnamese origin, diagnosed with sitosterolemia at the Vietnam National Children\u2019s Hospital between March 2015 and July 2024. Results: The median ages at disease onset and diagnosis were 5.7 years (range: 1.5\u201317.9) and 7.2 years (range: 1.7\u201317.9), respectively. Xanthomas were observed in 85.7% of patients (12\/14), arthralgia in 14.3% (2\/14), and anemia in 7.1% (1\/14), with no cases of thrombocytopenia. At diagnosis, all patients exhibited elevated total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C), with considerably higher levels in patients with xanthomas compared to those without. Mutations in the ABCG5 gene were identified in 71.4% (10\/14) of the patients, while 28.6% (4\/14) had mutations in the ABCG8 gene. Fourteen variants were detected, nine in ABCG5 and five in ABCG8, with five variants reported for the first time in sitosterolemia patients. Initial management for all patients involved dietary modifications. After three months, 10 patients with persistently elevated TC and LDL-C received ezetimibe or cholestyramine treatment. Among the eight patients who continued treatment for over three months, the median TC and LDL-C concentrations decreased by 54.9% and 67.3%, respectively. Conclusions: Among Vietnamese patients with sitosterolemia, variants in the ABCG5 gene were more prevalent than those in the ABCG8 gene. Patients showed a positive response to ezetimibe or cholestyramine treatment. Genetic testing is essential for establishing a diagnosis of sitosterolemia and guiding accurate management strategies.<\/jats:p>","DOI":"10.3390\/jcm14020325","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T10:45:55Z","timestamp":1736246755000},"page":"325","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children\u2019s Hospital"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-9054-4557","authenticated-orcid":false,"given":"Thi Thanh Mai","family":"Do","sequence":"first","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"},{"name":"Center of Endocrinology, Metabolism, Genetic\/Genomics and Molecular Therapy, Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0418-2613","authenticated-orcid":false,"given":"Chi Dung","family":"Vu","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"},{"name":"Center of Endocrinology, Metabolism, Genetic\/Genomics and Molecular Therapy, Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tran Minh","family":"Dien","sequence":"additional","affiliation":[{"name":"Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1404-0328","authenticated-orcid":false,"given":"Thi Bich Ngoc","family":"Can","sequence":"additional","affiliation":[{"name":"Center of Endocrinology, Metabolism, Genetic\/Genomics and Molecular Therapy, Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi Thanh Ngan","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Street, Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6284-5813","authenticated-orcid":false,"given":"Huy Hoang","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Street, Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Van Khanh","family":"Tran","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ngoc Lan","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huy Thinh","family":"Tran","sequence":"additional","affiliation":[{"name":"Biochemistry Department, Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5359-9477","authenticated-orcid":false,"given":"Tran Thi Chi","family":"Mai","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khanh Ngoc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"},{"name":"Center of Endocrinology, Metabolism, Genetic\/Genomics and Molecular Therapy, Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.6065\/apem.2016.21.1.7","article-title":"Sitosterolemia: A Review and Update of Pathophysiology, Clinical Spectrum, Diagnosis, and Management","volume":"21","author":"Yoo","year":"2016","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"47594","DOI":"10.1074\/jbc.M308235200","article-title":"Compared with Acyl-CoA:Cholesterol O-Acyltransferase (ACAT) 1 and Lecithin:Cholesterol Acyltransferase, ACAT2 Displays the Greatest Capacity to Differentiate Cholesterol from Sitosterol","volume":"278","author":"Temel","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.jacl.2021.11.015","article-title":"Clinical, Genetic Profile and Therapy Evaluation of 55 Children and 5 Adults with Sitosterolemia","volume":"16","author":"Xia","year":"2022","journal-title":"J. Clin. Lipidol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1111\/jth.13777","article-title":"Two Novel Variants of the ABCG5 Gene Cause Xanthelasmas and Macrothrombocytopenia: A Brief Review of Hematologic Abnormalities of Sitosterolemia","volume":"15","author":"Bastida","year":"2017","journal-title":"J. Thromb. Haemost."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.atherosclerosis.2017.05.002","article-title":"Timely Diagnosis of Sitosterolemia by next Generation Sequencing in Two Children with Severe Hypercholesterolemia","volume":"262","author":"Buonuomo","year":"2017","journal-title":"Atherosclerosis"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Miroshnikova, V.V., Vasiluev, P.A., Linkova, S.V., Soloviov, V.M., Ivanova, O.N., Tolmacheva, E.R., Udalova, V.Y., Baranova, P.V., Aleksandrova, D.Y., and Strokova, T.V. (2023). Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice. J. Pers. Med., 13.","DOI":"10.3390\/jpm13101492"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1297\/cpe.26.17","article-title":"A Case of Sitosterolemia Due to Compound Heterozygous Mutations in ABCG5: Clinical Features and Treatment Outcomes Obtained with Colestimide and Ezetimibe","volume":"26","author":"Ono","year":"2017","journal-title":"Clin. Pediatr. Endocrinol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"791","DOI":"10.5551\/jat.RV17052","article-title":"Diagnosis and Management of Sitosterolemia 2021","volume":"28","author":"Tada","year":"2021","journal-title":"J. Atheroscler. Thromb."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.cca.2008.10.026","article-title":"Identification of a Novel Mutation for Phytosterolemia. Genetic Analyses of 2 Cases","volume":"401","author":"Togo","year":"2009","journal-title":"Clin. Chim. Acta"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1210\/jc.2013-3274","article-title":"Sitosterolemia Presenting with Severe Hypercholesterolemia and Intertriginous Xanthomas in a Breastfed Infant: Case Report and Brief Review","volume":"99","author":"Park","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e003390","DOI":"10.1161\/CIRCGEN.121.003390","article-title":"Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program","volume":"15","author":"Tada","year":"2022","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.arteri.2024.02.003","article-title":"Family Sitosterolemia: Report of Two Cases in Colombia","volume":"36","author":"Castellanos","year":"2024","journal-title":"Cl\u00ednica E Investig. En Arterioscler."},{"key":"ref_13","first-page":"4451595","article-title":"Sitosterolemia: A Case Report and a Concise Literature Review","volume":"2023","author":"Mahzari","year":"2023","journal-title":"Case Rep. Endocrinol."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Williams, K., Segard, A., and Graf, G.A. (2021). Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22052641"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.cca.2020.04.003","article-title":"Serum Sitosterol Level Predicting ABCG5 or ABCG8 Genetic Mutations","volume":"507","author":"Kojima","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_16","first-page":"1226","article-title":"Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities","volume":"99","author":"Cao","year":"2019","journal-title":"Zhonghua Yi Xue Za Zhi"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1016\/j.amjcard.2020.01.048","article-title":"Features of Sitosterolemia in Children","volume":"125","author":"Xu","year":"2020","journal-title":"Am. J. Cardiol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/s12944-022-01710-1","article-title":"Clinical Characteristics of Sitosterolemic Children with Xanthomas as the First Manifestation","volume":"21","author":"Zhang","year":"2022","journal-title":"Lipids Health Dis."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1126\/science.290.5497.1771","article-title":"Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters","volume":"290","author":"Berge","year":"2000","journal-title":"Science"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1086\/321294","article-title":"Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively","volume":"69","author":"Lu","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Lee, J.H., Song, D.Y., Jun, S.-H., Song, S.H., Shin, C.H., Ki, C.-S., Lee, K., and Song, J. (2020). High Prevalence of Increased Sitosterol Levels in Hypercholesterolemic Children Suggest Underestimation of Sitosterolemia Incidence. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0238079"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.jacl.2017.10.008","article-title":"A Case of Sitosterolemia Misdiagnosed as Familial Hypercholesterolemia: A 4-Year Follow-Up","volume":"12","author":"Wang","year":"2018","journal-title":"J. Clin. Lipidol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"luae086","DOI":"10.1210\/jcemcr\/luae086","article-title":"Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?","volume":"2","author":"Guay","year":"2024","journal-title":"JCEM Case Reports"},{"key":"ref_24","unstructured":"Farzam, K., and Morgan, R.T. (2024). Sitosterolemia (Phytosterolemia). StatPearls, StatPearls Publishing."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Ren, X., Zhang, J., Wang, L., Zhang, Y., Li, J., Yu, H., Zheng, Z., Zhang, Y., Zeng, H., and Chen, Y. (2024). Evaluation of Plasma Phytosterols in Sitosterolemia, Their Kindreds and Hyperlipidemia Subjects. J. Clin. Lipidol.","DOI":"10.1016\/j.jacl.2024.09.002"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"6766","DOI":"10.2174\/0929867325666180705145900","article-title":"Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management","volume":"26","author":"Bastida","year":"2019","journal-title":"Curr. Med. Chem."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1586\/14779072.6.4.567","article-title":"Familial Hypercholesterolemia: Current Treatment and Advances in Management","volume":"6","author":"Huijgen","year":"2008","journal-title":"Expert. Rev. Cardiovasc. Ther."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jpeds.2014.08.069","article-title":"Ezetimibe Reduces Plant Sterol Accumulation and Favorably Increases Platelet Count in Sitosterolemia","volume":"166","author":"Othman","year":"2015","journal-title":"J. Pediatr."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.cca.2020.05.010","article-title":"A Novel Frameshift PHKA2 Mutation in a Family with Glycogen Storage Disease Type IXa: A First Report in Vietnam and Review of Literature","volume":"508","author":"Nguyen","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13073-021-00835-9","article-title":"CADD-Splice-Improving Genome-Wide Variant Effect Prediction Using Deep Learning-Derived Splice Scores","volume":"13","author":"Rentzsch","year":"2021","journal-title":"Genome Med."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: Mutation Prediction for the Deep-Sequencing Age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"145310","DOI":"10.1016\/j.gene.2020.145310","article-title":"Whole Exome Sequencing for Non-Selective Pediatric Patients with Hyperlipidemia","volume":"768","author":"Hu","year":"2021","journal-title":"Gene"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1161\/CIRCGEN.119.002871","article-title":"Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease","volume":"13","author":"Nomura","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jacl.2020.01.007","article-title":"ABCG5 and ABCG8 Genetic Variants in Familial Hypercholesterolemia","volume":"14","author":"Reeskamp","year":"2020","journal-title":"J. Clin. Lipidol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.atherosclerosis.2014.02.030","article-title":"Premature Atherosclerosis Is Not Systematic in Phytosterolemic Patients: Severe Hypercholesterolemia as a Confounding Factor in Five Subjects","volume":"234","author":"Hansel","year":"2014","journal-title":"Atherosclerosis"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/ajh.23619","article-title":"Specific Macrothrombocytopenia\/Hemolytic Anemia Associated with Sitosterolemia","volume":"89","author":"Wang","year":"2014","journal-title":"Am. J. Hematol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1172\/JCI107640","article-title":"Beta-Sitosterolemia and Xanthomatosis. A Newly Described Lipid Storage Disease in Two Sisters","volume":"53","author":"Bhattacharyya","year":"1974","journal-title":"J. Clin. Investig."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.1365-2141.2005.05599.x","article-title":"Stomatocytic Haemolysis and Macrothrombocytopenia (Mediterranean Stomatocytosis\/Macrothrombocytopenia) Is the Haematological Presentation of Phytosterolaemia","volume":"130","author":"Rees","year":"2005","journal-title":"Br. J. Haematol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"E124","DOI":"10.1002\/ajh.25427","article-title":"Unusual Presentations of Sitosterolemia Limited to Hematological Abnormalities: A Report of Four Cases Presenting with Stomatocytic Anemia and Thrombocytopenia with Macrothrombocytes","volume":"94","author":"Zheng","year":"2019","journal-title":"Am. J. Hematol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.cca.2022.02.021","article-title":"Clinical and Genetic Features of Sitosterolemia in Japan","volume":"530","author":"Tada","year":"2022","journal-title":"Clin. Chim. Acta"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1186\/s12944-024-02077-1","article-title":"Gene Variants and Clinical Characteristics of Children with Sitosterolemia","volume":"23","author":"Gu","year":"2024","journal-title":"Lipids Health Dis."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"S26","DOI":"10.1016\/j.atherosclerosis.2023.06.953","article-title":"Sitosterolemia in Iberoamerican Countries: New Cases and Phenotype Genotype Analysis","volume":"379","author":"Alves","year":"2023","journal-title":"Atherosclerosis"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1016\/j.jacl.2021.07.001","article-title":"Genetic Basis and Hematologic Manifestations of Sitosterolemia in a Group of Turkish Patients","volume":"15","author":"Kaya","year":"2021","journal-title":"J. Clin. Lipidol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"S33","DOI":"10.1016\/j.ihj.2023.11.267","article-title":"Role of Statins in the Management of Dyslipidaemia","volume":"76","author":"Ray","year":"2024","journal-title":"Indian. Heart J."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"891","DOI":"10.5551\/jat.4614","article-title":"Current Therapy for Patients with Sitosterolemia--Effect of Ezetimibe on Plant Sterol Metabolism","volume":"17","author":"Nishida","year":"2010","journal-title":"J. Atheroscler. Thromb."},{"key":"ref_46","first-page":"389","article-title":"A Marked and Sustained Reduction in LDL Sterols by Diet and Cholestyramine in Beta-Sitosterolemia","volume":"18","author":"Parsons","year":"1995","journal-title":"Clin. Investig. Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s10545-010-9126-2","article-title":"Clinical Observations, Molecular Genetic Analysis, and Treatment of Sitosterolemia in Infants and Children","volume":"33","author":"Niu","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_48","first-page":"4","article-title":"Sitosterolemia-10 Years Observation in Two Sisters","volume":"48","author":"Veit","year":"2019","journal-title":"JIMD Rep."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"4313","DOI":"10.1093\/hmg\/ddq352","article-title":"Identification by Whole-Genome Resequencing of Gene Defect Responsible for Severe Hypercholesterolemia","volume":"19","author":"Rios","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1515\/jpem-2017-0093","article-title":"Carotid Intima Media Thickness in a Girl with Sitosterolemia Carrying a Homozygous Mutation in the ABCG5 Gene","volume":"30","author":"Yagasaki","year":"2017","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.jacl.2017.10.013","article-title":"The Association between Hypercholesterolemia and Sitosterolemia, and Report of a Sitosterolemia Kindred","volume":"12","author":"Brinton","year":"2018","journal-title":"J. Clin. Lipidol."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/2\/325\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T10:24:31Z","timestamp":1759919071000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/2\/325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,7]]},"references-count":51,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,1]]}},"alternative-id":["jcm14020325"],"URL":"https:\/\/doi.org\/10.3390\/jcm14020325","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,7]]}}}