HYPERCHOLESTEROLEMIA

作品数：101被引量：227H指数：8
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相关领域：医药卫生更多>>
相关作者：秦玉刘云付卿卿陈欣杰徐向华更多>>
相关机构：中国福利会国际和平妇幼保健院第三军医大学首都医科大学中国南方航空股份有限公司更多>>
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相关基金：国家自然科学基金国家重点基础研究发展计划北京市自然科学基金湖北省自然科学基金更多>>
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Homozygous phytosterolemia and a literature review:A case report
《World Journal of Clinical Cases》2025年第10期46-52,共7页Chun-Xin Jiang Guang Yang Lian-Ping Shi Peng-Yu Su 
Supported by Natural Science Foundation of Heibei Province,No.H2020209160。
BACKGROUND Phytosterolemia,also known as sitosterolemia,is a rare autosomal recessive disease characterized by elevated plasma plant sterol levels and xanthomata,which is easily misdiagnosed as familial hypercholester...
关键词：HYPERCHOLESTEROLEMIA CHOLESTEROL Low-density lipoprotein Phytosterolemia Liquid chromatography ABCG5/ABCG8 Sitosterolemia 
De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report被引量：2
《World Journal of Clinical Cases》2021年第36期11487-11494,共8页Hui-Yan Liu Meng Li Qi Li 
Yunnan Science Foundation Project,No.2019-81960102.
BACKGROUND Sodium taurocholate cotransport polypeptide(NTCP)deficiency disease is a genetic metabolic disorder due to mutations in the SLC10A1 gene and impaired bile acid salt uptake by the basolateral membrane transp...
关键词：Sodium taurocholate cotransport polypeptide SLC10A1 gene HYPERCHOLESTEROLEMIA Behavioral neurodevelopmental delay Children Case report 
Congenital analbuminemia in a patient affected by hypercholesterolemia:A case report
《World Journal of Clinical Cases》2019年第4期466-472,共7页Patrizia Suppressa Concetta Carbonara Francesca Lugani Monica Campagnoli Teresa Troiano Lorenzo Minchiotti Carlo Sabbà 
a Grant of the Italian Ministry of Education,University and Research to the Department of Molecular Medicine of the University of Pavia under the initiative "Dipartimenti di Eccellenza(2018-2022)",and Compagnia di S.Paolo,No.ROL9849
BACKGROUND Congenital analbuminemia(CAA) is a very rare disorder. Our data describes the clinical features and laboratory results of a new case established by mutation analysis of the albumin gene in a 39-year-old wom...
关键词：CONGENITAL analbuminemia HYPERCHOLESTEROLEMIA HYPOALBUMINEMIA RARE disease Case report 
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion被引量：1
《World Journal of Clinical Cases》2013年第1期44-48,共5页Maria Del Ben Francesco Angelico Lorenzo Loffredo Francesco Violi 
Congenital analbuminemia is a rare autosomic recessive inherited disorder characterized by low plasma albumin and hypercholesterolemia, which may increase cardiovascular risk. Patients are essentially asymptomatic, ap...
关键词：Analbuminemia HYPERCHOLESTEROLEMIA ATORVASTATIN ALBUMIN INFUSION ENDOTHELIAL dysfunction 
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