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A-BETA-LIPOPROTEINAEMIA.

作者信息

FORSYTH C C, LLOYD J K, FOSBROOKE A S

出版信息

Arch Dis Child. 1965 Feb;40(209):47-51. doi: 10.1136/adc.40.209.47.

DOI:10.1136/adc.40.209.47
PMID:14259271
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019248/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ef0/2019248/f4df78f0b171/archdisch01574-0056-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ef0/2019248/4270ac5509db/archdisch01574-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ef0/2019248/cddb825c6c8d/archdisch01574-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ef0/2019248/f4df78f0b171/archdisch01574-0056-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ef0/2019248/4270ac5509db/archdisch01574-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ef0/2019248/cddb825c6c8d/archdisch01574-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ef0/2019248/f4df78f0b171/archdisch01574-0056-b.jpg

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A-BETA-LIPOPROTEINAEMIA.无β脂蛋白血症
Arch Dis Child. 1965 Feb;40(209):47-51. doi: 10.1136/adc.40.209.47.
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A-BETA-LIPOPROTEINAEMIA WITH SPECIAL REFERENCE TO THE VISUAL DEFECT.无β脂蛋白血症及其视觉缺陷的特别参考
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CONGENITAL BETA-LIPOPROTEIN DEFICIENCY: AN HEREDITARY DISORDER INVOLVING A DEFECT IN THE ABSORPTION AND TRANSPORT OF LIPIDS.先天性β-脂蛋白缺乏症：一种涉及脂质吸收和转运缺陷的遗传性疾病。
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A-BETA-LIPOPROTEINAEMIA (BASSEN-KORNZWEIG SYNDROME): REPORT OF A CASE.无β脂蛋白血症（巴森-科尔兹韦格综合征）：病例报告
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Hereditary neurological disease with acanthocytosis. A new syndrome.
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Abetalipoproteinemia in an Indian family.

本文引用的文献

1
BIOCHEMICAL FINDINGS IN HUMAN RETINITIS PIGMENTOSA WITH PARTICULAR RELATION TO VITAMIN A DEFICIENCY.人类视网膜色素变性的生化研究结果，尤其与维生素A缺乏的关系
Br J Ophthalmol. 1962 Mar;46(3):151-64. doi: 10.1136/bjo.46.3.151.
2
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.
3
Acanthrocytosis; a genetic erythrocytic malformation.棘红细胞增多症；一种遗传性红细胞畸形。
Indian J Pediatr. 1996 Mar-Apr;63(2):263-9. doi: 10.1007/BF02845255.
4
Use of medium-chain triglyceride diets in children with malabsorption.中链甘油三酯饮食在吸收不良儿童中的应用。
Arch Dis Child. 1969 Apr;44(234):170-9. doi: 10.1136/adc.44.234.170.
5
A-beta-lipoproteinaemia and colour-blindness.无β脂蛋白血症与色盲
Arch Dis Child. 1971 Dec;46(250):871-3. doi: 10.1136/adc.46.250.871.
6
Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinaemia.口服维生素E补充剂可预防无β脂蛋白血症的视网膜病变。
Br J Ophthalmol. 1986 Mar;70(3):166-73. doi: 10.1136/bjo.70.3.166.
7
Long-term management of abetalipoproteinaemia. Possible role for vitamin E.无β脂蛋白血症的长期管理。维生素E的潜在作用。
Arch Dis Child. 1977 Mar;52(3):209-14. doi: 10.1136/adc.52.3.209.
Blood. 1952 Jun;7(6):577-91.
4
Quantitative chromatographic analysis of plasma and red blood cell lipids in patients with acanthocytosis.棘红细胞增多症患者血浆和红细胞脂质的定量色谱分析。
J Lab Clin Med. 1962 Mar;59:357-63.
5
[HEREDOPATHIA ATACTICA POLYNEURITIFORMIS. CLINICAL ASPECTS AND DIAGNOSIS OF THE REFSUM SYNDROME].[多神经炎型遗传性共济失调。雷夫叙姆综合征的临床症状与诊断]
Dtsch Med Wochenschr. 1964 Feb 7;89:248-54. doi: 10.1055/s-0028-1111013.
6
Congenital absence of beta-lipoproteins.先天性β脂蛋白缺乏症。
Pediatrics. 1963 Feb;31:277-89.
7
Bassen-Kornweig syndrome. Neuromuscular disorder resembling Friedreich's ataxia associated with retinitis pigmentosa, acanthocytosis, steatorrhea, and an abnormality of lipid metabolism.巴森-科恩韦格综合征。一种神经肌肉疾病，类似于弗里德赖希共济失调，伴有色素性视网膜炎、棘红细胞增多症、脂肪泻和脂质代谢异常。
Trans Am Neurol Assoc. 1961;86:49-53.
8
Hypocholesteremia in idiopathic steatorrhea with report of a case of profound hypocholesteremia of lifelong standing.
Arch Intern Med. 1960 Jan;105:112-20.
9
Acanthrocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome and associated metabolic disorder.
Blood. 1960 Nov;16:1586-608.
10
[The congenital abscence of beta-lipoproteins].
C R Seances Soc Biol Fil. 1960;154:1974-8.