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Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

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Title: Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.
Authors: Wu SF; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Xu ZY; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Xie LJ; Department of Oncology, Zhangzhou Traditional Chinese Medical Hospital, Affiliated Zhangzhou TCM Hospital, Fujian University of Traditional Chinese Medicine, Zhangzhou, China., Chen L; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Ye Y; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Wang XL; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Zou J; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Zhu J; Fujian University of Traditional Chinese Medicine, Fuzhou, China., Wang RL; Department of Emergency, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China; Fujian Provincial Key Laboratory of Emergency Medicine, Fujian Provincial Institute of Emergency Medicine, Fujian Emergency Medical Center, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Luo YJ; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Zhang JH; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Chen Q; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Ruan DD; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Zhou YF; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Gao MZ; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Zhang L; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Li YF; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Fang ZT; Department of Oncology and Vascular Interventional Therapy, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital (Fujian Branch of Fudan University Shanghai Cancer Center), Fuzhou, China., Huang FM; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Liao LS; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China., Hu B; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Key Laboratory of Precision Medicine of Coronary Atherosclerotic Disease, Clinical Center for Coronary Heart Disease, Capital Medical University, Beijing, China. Electronic address: hubin80@126.com., Zheng ZH; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China. Electronic address: 751422449@qq.com., Luo JW; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China. Electronic address: docluo0421@aliyun.com., Lin XF; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China. Electronic address: 418665840@qq.com.
Source: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences [J Chromatogr B Analyt Technol Biomed Life Sci] 2026 Apr 01; Vol. 1273, pp. 124963. Date of Electronic Publication: 2026 Feb 11.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101139554 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-376X (Electronic) Linking ISSN: 15700232 NLM ISO Abbreviation: J Chromatogr B Analyt Technol Biomed Life Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.
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  Data: <searchLink fieldCode="AU" term="%22Wu+SF%22">Wu SF</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Xu+ZY%22">Xu ZY</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Xie+LJ%22">Xie LJ</searchLink>; Department of Oncology, Zhangzhou Traditional Chinese Medical Hospital, Affiliated Zhangzhou TCM Hospital, Fujian University of Traditional Chinese Medicine, Zhangzhou, China.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Ye+Y%22">Ye Y</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+XL%22">Wang XL</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zou+J%22">Zou J</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhu+J%22">Zhu J</searchLink>; Fujian University of Traditional Chinese Medicine, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+RL%22">Wang RL</searchLink>; Department of Emergency, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China; Fujian Provincial Key Laboratory of Emergency Medicine, Fujian Provincial Institute of Emergency Medicine, Fujian Emergency Medical Center, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Luo+YJ%22">Luo YJ</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+JH%22">Zhang JH</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Chen+Q%22">Chen Q</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Ruan+DD%22">Ruan DD</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhou+YF%22">Zhou YF</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Gao+MZ%22">Gao MZ</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Li+YF%22">Li YF</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Fang+ZT%22">Fang ZT</searchLink>; Department of Oncology and Vascular Interventional Therapy, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital (Fujian Branch of Fudan University Shanghai Cancer Center), Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Huang+FM%22">Huang FM</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Liao+LS%22">Liao LS</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Hu+B%22">Hu B</searchLink>; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Key Laboratory of Precision Medicine of Coronary Atherosclerotic Disease, Clinical Center for Coronary Heart Disease, Capital Medical University, Beijing, China. Electronic address: hubin80@126.com.<br /><searchLink fieldCode="AU" term="%22Zheng+ZH%22">Zheng ZH</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China. Electronic address: 751422449@qq.com.<br /><searchLink fieldCode="AU" term="%22Luo+JW%22">Luo JW</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China. Electronic address: docluo0421@aliyun.com.<br /><searchLink fieldCode="AU" term="%22Lin+XF%22">Lin XF</searchLink>; Department of Traditional Chinese Medicine and pediatrics and Nephrology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China; Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China. Electronic address: 418665840@qq.com.
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  Data: <searchLink fieldCode="JN" term="%22101139554%22">Journal of chromatography. B, Analytical technologies in the biomedical and life sciences</searchLink> [J Chromatogr B Analyt Technol Biomed Life Sci] 2026 Apr 01; Vol. 1273, pp. 124963. <i>Date of Electronic Publication: </i>2026 Feb 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101139554 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-376X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215700232%22">15700232 </searchLink><i>NLM ISO Abbreviation: </i>J Chromatogr B Analyt Technol Biomed Life Sci <i>Subsets: </i>MEDLINE
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