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伴有进行性神经功能恶化的单纯维生素E缺乏症。

Isolated deficiency of vitamin E with progressive neurologic deterioration.

作者信息

Krendel D A, Gilchrist J M, Johnson A O, Bossen E H

出版信息

Neurology. 1987 Mar;37(3):538-40. doi: 10.1212/wnl.37.3.538.

DOI:10.1212/wnl.37.3.538
PMID:3822155
Abstract

We studied a 19-year-old man with vitamin E deficiency without intestinal fat malabsorption. In addition to recognized neurologic complications of vitamin E deficiency, he had dystonic posturing and bradykinesia.

摘要

我们研究了一名19岁的男性,他患有维生素E缺乏症,但没有肠道脂肪吸收不良。除了维生素E缺乏症公认的神经系统并发症外,他还有肌张力障碍姿势和运动迟缓。

相似文献

1
Isolated deficiency of vitamin E with progressive neurologic deterioration.伴有进行性神经功能恶化的单纯维生素E缺乏症。
Neurology. 1987 Mar;37(3):538-40. doi: 10.1212/wnl.37.3.538.
2
Neurologic disorder of vitamin E deficiency in acquired intestinal malabsorption.后天性肠道吸收不良中维生素E缺乏所致的神经系统疾病
Neurology. 1984 Dec;34(12):1561-5. doi: 10.1212/wnl.34.12.1561.
3
Vitamin E deficiency and neurologic disease.
Annu Rev Nutr. 1988;8:351-73. doi: 10.1146/annurev.nu.08.070188.002031.
4
Vitamin E and neurologic function in man.
Free Radic Biol Med. 1989;6(2):189-207. doi: 10.1016/0891-5849(89)90117-2.
5
[Neurological symptoms associated with vitamin E deficiency].
Harefuah. 1995 Dec 15;129(12):539-42, 615.
6
A progressive neurologic syndrome in children with chronic liver disease.患有慢性肝病的儿童中的一种进行性神经综合征。
N Engl J Med. 1981 Feb 26;304(9):503-8. doi: 10.1056/NEJM198102263040902.
7
Reversible neurological symptoms caused by vitamin E deficiency in a patient with short bowel syndrome.短肠综合征患者维生素E缺乏引起的可逆性神经症状
Am J Clin Nutr. 1982 Dec;36(6):1243-9. doi: 10.1093/ajcn/36.6.1243.
8
Neurologic findings in vitamin E deficiency.
Am Fam Physician. 1997 Jan;55(1):197-201.
9
Improved neurologic function after long-term correction of vitamin E deficiency in children with chronic cholestasis.长期纠正慢性胆汁淤积症患儿维生素E缺乏后神经功能得到改善。
N Engl J Med. 1985 Dec 19;313(25):1580-6. doi: 10.1056/NEJM198512193132505.
10
Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report.
Eur Neurol. 1991;31(6):366-71. doi: 10.1159/000116695.

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A TTPA deletion is associated with retinopathy with vitamin E deficiency in the English Cocker Spaniel dog.在英国可卡犬中,组织型纤溶酶原激活剂(TTPA)缺失与维生素E缺乏性视网膜病变有关。
G3 (Bethesda). 2025 Apr 17;15(4). doi: 10.1093/g3journal/jkaf016.
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Ataxia with Vitamin E Deficiency with Predominant Cervical Dystonia.伴有维生素E缺乏且以颈部肌张力障碍为主的共济失调
Mov Disord Clin Pract. 2019 Dec 30;7(1):100-103. doi: 10.1002/mdc3.12871. eCollection 2020 Jan.
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More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.
不止共济失调:儿童常染色体隐性共济失调综合征中的运动障碍
Tremor Other Hyperkinet Mov (N Y). 2016 Jul 16;6:368. doi: 10.7916/D8H70FSS. eCollection 2016.
4
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia.维生素E缺乏性共济失调可能表现为颈部肌张力障碍。
Tremor Other Hyperkinet Mov (N Y). 2016 May 17;6:374. doi: 10.7916/D8B85820. eCollection 2016.
5
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.单纯维生素E缺乏性共济失调:大量家系中的突变异质性和表型变异性
Am J Hum Genet. 1998 Feb;62(2):301-10. doi: 10.1086/301699.
6
Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization.
Biochem J. 1995 Mar 1;306 ( Pt 2)(Pt 2):437-43. doi: 10.1042/bj3060437.
7
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.维生素E缺乏性共济失调:利用新标记对14个家系进行基因定位的细化及连锁不平衡分析
Am J Hum Genet. 1995 May;56(5):1116-24.
8
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up.
J Inherit Metab Dis. 1995;18(3):333-40. doi: 10.1007/BF00710425.
9
Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver.家族性单纯维生素E缺乏患者将α-生育酚整合到肝脏分泌的脂蛋白中的能力受损。
J Clin Invest. 1990 Feb;85(2):397-407. doi: 10.1172/JCI114452.