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名词信息
中 文 名:
家族性载脂蛋白B100缺陷症
英 文 名:
familial defective apoB100
中文又称:
中文曾称:
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所属专业:
内分泌科
所属类别:
疾病诊断名词
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Pubmed相关的文献
familial defective apoB100
相关文献:
Familial Hypercholesterolemia: Genes and Beyond.
Warden BA, Fazio S, Shapiro MD.
2024 Sep 23. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
PMID:26844336
Familial hypercholesterolaemia.
Marais AD.
Clin Biochem Rev. 2004 Feb;25(1):49-68.
PMID:18516203
Molecular description of familial defective APOB-100 in Malaysia.
Al-Khateeb AR, Mohd MS, Yusof Z, Zilfalil BA.
Biochem Genet. 2013 Oct;51(9-10):811-23. doi: 10.1007/s10528-013-9609-6. Epub 2013 Jun 18.
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Familial hypobetalipoproteinemia: a review.
Schonfeld G.
J Lipid Res. 2003 May;44(5):878-83. doi: 10.1194/jlr.R300002-JLR200. Epub 2003 Mar 16.
PMID:12639976
Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review.
Costa CJ, Nguyen MTT, Vaziri H, Wu GY.
J Clin Transl Hepatol. 2024 Mar 28;12(3):316-326. doi: 10.14218/JCTH.2023.00563. Epub 2024 Feb 8.
PMID:38426197
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
Borén J, Ekström U, Agren B, Nilsson-Ehle P, Innerarity TL.
J Biol Chem. 2001 Mar 23;276(12):9214-8. doi: 10.1074/jbc.M008890200. Epub 2000 Dec 13.
PMID:11115503
Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?
Gasparovic J, Basistová Z, Fábryová L, Wsólová L, Vohnout B, Raslová K; Slovak MED PED FH group.
Atherosclerosis. 2007 Oct;194(2):e95-107. doi: 10.1016/j.atherosclerosis.2006.10.015. Epub 2006 Dec 27.
PMID:17194460
Diagnosis and management of familial dyslipoproteinemias.
Kwiterovich PO Jr.
Curr Cardiol Rep. 2013 Jun;15(6):371. doi: 10.1007/s11886-013-0371-5.
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Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.
Pullinger CR, Hennessy LK, Chatterton JE, Liu W, Love JA, Mendel CM, Frost PH, Malloy MJ, Schumaker VN, Kane JP.
J Clin Invest. 1995 Mar;95(3):1225-34. doi: 10.1172/JCI117772.
PMID:7883971
Lipid disorders and mutations in the APOB gene.
Whitfield AJ, Barrett PH, van Bockxmeer FM, Burnett JR.
Clin Chem. 2004 Oct;50(10):1725-32. doi: 10.1373/clinchem.2004.038026. Epub 2004 Aug 12.
PMID:15308601
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