相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Features of Sitosterolemia in Children
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Sahoko Ono et al.
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Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia
Paola Sabrina Buonuomo et al.
ATHEROSCLEROSIS (2017)
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Hayato Tada et al.
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Pierre Ronco et al.
LANCET (2015)
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Ales Zak et al.
BIOMEDICAL PAPERS-OLOMOUC (2014)
Sitosterolemia Presenting With Severe Hypercholesterolemia and Intertriginous Xanthomas in a Breastfed Infant: Case Report and Brief Review
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Gaifeng Wang et al.
ACTA HAEMATOLOGICA (2011)
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
Jonathan Rios et al.
HUMAN MOLECULAR GENETICS (2010)
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Dau-Ming Niu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
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Masako Togo et al.
CLINICA CHIMICA ACTA (2009)
Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia:: a 2-year, open-label extension study
D. Luetjohann et al.
INTERNATIONAL JOURNAL OF CLINICAL PRACTICE (2008)
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S. Kidambi et al.
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Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
DC Rees et al.
BRITISH JOURNAL OF HAEMATOLOGY (2005)
Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia
G Salen et al.
CIRCULATION (2004)
Phenotypic heterogeneity of sitosterolemia
J Wang et al.
JOURNAL OF LIPID RESEARCH (2004)
Retrospective cohort study of 148 patients with polyclonal gammopathy
A Dispenzieri et al.
MAYO CLINIC PROCEEDINGS (2001)
Circulating autoantibodies to oxidized LDL correlate with arterial accumulation and depletion of oxidized LDL in LDL receptor-deficient mice
S Tsimikas et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2001)
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
KE Berge et al.
SCIENCE (2000)
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