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Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.

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Title: Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
Authors: Wu LL; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology and Metabolism Nephrology, Guangxi Medical University Cancer Hospital, Nanning, People's Republic of China., Zhang L; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China., Tang TT; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology, Yancheng No. 1, People's Hospital, Yancheng, People's Republic of China., Zhou YY; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology and Metabolism, Sixth Affiliated Hospital of Kunming Medical University, Yuxi, People's Republic of China., Chang XX; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China., Guo W; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. guo.wei@zs-hospital.sh.cn., Yan HM; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. yan.hongmei@zs-hospital.sh.cn., Lin HD; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. lin.huandong@zs-hospital.sh.cn.
Source: Journal of medical case reports [J Med Case Rep] 2026 Jan 28; Vol. 20 (1). Date of Electronic Publication: 2026 Jan 28.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
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  Data: <searchLink fieldCode="AU" term="%22Wu+LL%22">Wu LL</searchLink>; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology and Metabolism Nephrology, Guangxi Medical University Cancer Hospital, Nanning, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Tang+TT%22">Tang TT</searchLink>; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology, Yancheng No. 1, People's Hospital, Yancheng, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Zhou+YY%22">Zhou YY</searchLink>; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology and Metabolism, Sixth Affiliated Hospital of Kunming Medical University, Yuxi, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Chang+XX%22">Chang XX</searchLink>; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Guo+W%22">Guo W</searchLink>; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. guo.wei@zs-hospital.sh.cn.<br /><searchLink fieldCode="AU" term="%22Yan+HM%22">Yan HM</searchLink>; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. yan.hongmei@zs-hospital.sh.cn.<br /><searchLink fieldCode="AU" term="%22Lin+HD%22">Lin HD</searchLink>; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. lin.huandong@zs-hospital.sh.cn.
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  Data: <searchLink fieldCode="JN" term="%22101293382%22">Journal of medical case reports</searchLink> [J Med Case Rep] 2026 Jan 28; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 Jan 28.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101293382 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1752-1947 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217521947%22">17521947 </searchLink><i>NLM ISO Abbreviation: </i>J Med Case Rep <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41606675
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      – Type: doi
        Value: 10.1186/s13256-025-05814-x
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      – Code: eng
        Text: English
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      – TitleFull: Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
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            – D: 28
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              Text: 2026 Jan 28
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              Y: 2026
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