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Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

作者信息

Scott B B, Miller J P, Losowsky M S

出版信息

Gut. 1979 Feb;20(2):163-8. doi: 10.1136/gut.20.2.163.

DOI:10.1136/gut.20.2.163
PMID:428829
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1419446/
Abstract

A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d3f/1419446/7b24c77a1d8d/gut00447-0092-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d3f/1419446/100d4d9c02e4/gut00447-0091-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d3f/1419446/7b24c77a1d8d/gut00447-0092-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d3f/1419446/100d4d9c02e4/gut00447-0091-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d3f/1419446/7b24c77a1d8d/gut00447-0092-a.jpg

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J Inherit Metab Dis. 2014 May;37(3):333-9. doi: 10.1007/s10545-013-9665-4. Epub 2013 Nov 28.
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Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

本文引用的文献

1
Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.非典型色素性视网膜炎病例中的红细胞畸形。
Blood. 1950 Apr;5(4):381-87.
2
SOME PROPERTIES OF A CHOLESTEROL ESTERIFYING ENZYME IN HUMAN PLASMA.人血浆中胆固醇酯化酶的某些特性
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On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea.关于无β脂蛋白的情况。一种包括无β脂蛋白血症、棘红细胞增多症和脂肪泻的综合征。
安德森病（乳糜微粒滞留病）中 SAR1 基因和蛋白的分子分析及肠道表达。
Orphanet J Rare Dis. 2011 Jan 14;6:1. doi: 10.1186/1750-1172-6-1.
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Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.基于文献复习和两个中心经验的乳糜微粒滞留病的诊断和管理指南。
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5
Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma.家族性杂合子低β脂蛋白血症、肝外原发性恶性肿瘤和肝细胞癌。
Dig Dis Sci. 1998 Nov;43(11):2489-92. doi: 10.1023/a:1026646618643.
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A new hereditary acanthocytosis syndrome.
Am J Med. 1967 Jun;42(6):868-81. doi: 10.1016/0002-9343(67)90068-x.
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Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis).无β脂蛋白血症（棘状红细胞增多症）患者红细胞的过氧化溶血
J Clin Invest. 1967 Mar;46(3):357-68. doi: 10.1172/JCI105537.
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Congenital beta-lipoprotein deficiency.先天性β脂蛋白缺乏症。
Am J Med. 1966 May;40(5):794-804. doi: 10.1016/0002-9343(66)90162-8.
7
Acanthocytosis and neurological disorder without betalipoproteinemia.
Arch Neurol. 1968 Feb;18(2):134-40. doi: 10.1001/archneur.1968.00470320036004.
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Acanthocytosis, normolipoproteinaemia and multiple tics.棘红细胞增多症、正常脂蛋白血症与多发性抽搐。
Postgrad Med J. 1970 Dec;46(542):698-701. doi: 10.1136/pgmj.46.542.698.
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[Asymptomatic familial hypolipoproteinemia involving mainly beta-lipoproteins revealed during the study of an isolated proteinuria].
Presse Med (1893). 1969 Dec 20;77(54):2045-8.
10
The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase.
J Lab Clin Med. 1971 Sep;78(3):323-35.