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Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency.

作者信息

Weber Catherine L, Frohlich Jiri, Wang Jian, Hegele Robert A, Chan-Yan Clifford

机构信息

Department of Medicine, Section of Nephrology, Laboratory Medicine, University of British Columbia/St Paul's Hospital, 1081 Burrard Street, Providence Building, Room 6010A, Vancouver, British Columbia, Canada V6Z 1Y6.

出版信息

Nephrol Dial Transplant. 2007 Jul;22(7):2084-8. doi: 10.1093/ndt/gfm233. Epub 2007 Apr 23.

DOI:10.1093/ndt/gfm233
PMID:17452402
Abstract
摘要

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Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency.家族性卵磷脂胆固醇酰基转移酶缺乏症患者腹膜透析时脂质的稳定性
Nephrol Dial Transplant. 2007 Jul;22(7):2084-8. doi: 10.1093/ndt/gfm233. Epub 2007 Apr 23.
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Possible induction of renal dysfunction in patients with lecithin:cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli.卵磷脂:胆固醇酰基转移酶缺乏患者肾小球中氧化磷脂酰胆碱可能诱发肾功能障碍。
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Nephropathy of familial lecithin-cholesterol acyltransferase deficiency: report of a case.
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Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.家族性卵磷脂胆固醇酰基转移酶缺乏症:波兰一个家族中一种新的卵磷脂胆固醇酰基转移酶(LCAT)突变的生化特征及分子分析
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Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype.
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Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.卵磷脂胆固醇酰基转移酶(LCAT)基因中的复合杂合性(G71R/R140H)导致了一种介于LCAT缺乏症和鱼眼病之间的中间表型。
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[Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease].[卵磷脂:胆固醇酰基转移酶(LCAT)——家族性LCAT缺乏症和鱼眼病的基因分析]
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[Molecular defects in familial LCAT deficiency].[家族性卵磷脂胆固醇酰基转移酶缺乏症的分子缺陷]
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[Familial LCAT deficiency].[家族性卵磷脂胆固醇酰基转移酶缺乏症]
Nihon Rinsho. 1994 Dec;52(12):3210-5.

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LCAT deficiency as a cause of proteinuria and corneal opacification.卵磷脂胆固醇酰基转移酶缺乏症作为蛋白尿和角膜混浊的一个病因。
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