• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract.

作者信息

Vetter V, Shin Y S

机构信息

Universitäts-Klinik für Kinder und Jugendliche, Erlangen, Germany.

出版信息

Eur J Pediatr. 1995 May;154(5):389-91. doi: 10.1007/BF02072111.

DOI:10.1007/BF02072111
PMID:7641773
Abstract

UNLABELLED

Lens sorbitol dehydrogenase activity was assayed in patients with congenital cataracts, senile cataracts, without cataracts and in one fetal lens. In patients with congenital cataracts we did not observe any abnormality of galactose and sorbitol metabolising enzymes in erythrocytes. In one of these patients with inexplicable congenital cataracts lens sorbitol dehydrogenase deficiency was found.

CONCLUSION

Determination of galactose metabolising enzymes, sorbitol dehydrogenase and polyols in lenses may help in understanding the mechanism of formation of inexplicable congenital cataracts.

摘要

相似文献

1
Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract.
Eur J Pediatr. 1995 May;154(5):389-91. doi: 10.1007/BF02072111.
2
Sorbitol dehydrogenase deficiency in a family with congenital cataracts.一个患有先天性白内障的家族中的山梨醇脱氢酶缺乏症。
J Inherit Metab Dis. 1984;7 Suppl 2:151-2. doi: 10.1007/978-94-009-5612-4_50.
3
Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts.
Hum Genet. 1982;61(4):338-41. doi: 10.1007/BF00276598.
4
Aldose reductase in diabetic cataracts.糖尿病性白内障中的醛糖还原酶。
JAMA. 1981 Jul 17;246(3):257-61.
5
Studies on cataractogenesis in humans and in rats with alloxan-induced diabetes. II. Histochemical evaluation of lenticular enzymes.人类及用四氧嘧啶诱导糖尿病大鼠白内障形成的研究。II. 晶状体酶的组织化学评估。
Ophthalmic Res. 1985;17(1):12-20. doi: 10.1159/000265344.
6
Screening for red blood cell sorbitol dehydrogenase deficiency in patients with diabetes or cataracts.
Ophthalmic Paediatr Genet. 1987 Nov;8(3):197-202. doi: 10.3109/13816818709031470.
7
Aldose reductase and sorbitol dehydrogenase distribution in substructures of normal and diabetic rat lens.醛糖还原酶和山梨醇脱氢酶在正常和糖尿病大鼠晶状体亚结构中的分布
Invest Ophthalmol Vis Sci. 1977 Mar;16(3):242-3.
8
Cataracts in glucose-6-phosphate dehydrogenase deficiency.葡萄糖-6-磷酸脱氢酶缺乏症中的白内障。
Ophthalmic Paediatr Genet. 1993 Jun;14(2):81-6. doi: 10.3109/13816819309042907.
9
Membrane-bound sorbitol dehydrogenase in human red blood cells. Studies in normal subjects and in enzyme-deficient subjects with congenital cataracts.
J Inherit Metab Dis. 1993;16(1):67-72. doi: 10.1007/BF00711317.
10
Activities of NADPH-dependent reductases and sorbitol dehydrogenase in canine and feline lenses.犬猫晶状体中NADPH依赖性还原酶和山梨醇脱氢酶的活性
Am J Vet Res. 2000 Oct;61(10):1322-4. doi: 10.2460/ajvr.2000.61.1322.

引用本文的文献

1
Eye involvement in inherited metabolic disorders.遗传性代谢疾病中的眼部受累情况。
Ther Adv Ophthalmol. 2020 Dec 29;12:2515841420979109. doi: 10.1177/2515841420979109. eCollection 2020 Jan-Dec.
2
UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.晶状体和成纤维细胞中的UDP半乳糖差向异构酶：白内障和智力迟钝患者的活性表达
J Inherit Metab Dis. 2000 Jun;23(4):383-6. doi: 10.1023/a:1005699719068.

本文引用的文献

1
Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts.
Hum Genet. 1982;61(4):338-41. doi: 10.1007/BF00276598.
2
Partial galactose disorders in families with premature cataracts.患有先天性白内障的家族中的部分半乳糖代谢紊乱
Arch Dis Child. 1983 May;58(5):362-6. doi: 10.1136/adc.58.5.362.
3
Assay of UDP-galactose 4-epimerase.
Clin Chem. 1982 Nov;28(11):2332-3.
4
Sorbitol dehydrogenase deficiency in a family with congenital cataracts.
一个患有先天性白内障的家族中的山梨醇脱氢酶缺乏症。
J Inherit Metab Dis. 1984;7 Suppl 2:151-2. doi: 10.1007/978-94-009-5612-4_50.
5
Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.
Lancet. 1974 Aug 3;2(7875):259-61. doi: 10.1016/s0140-6736(74)91417-2.
6
Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism.
Clin Genet. 1985 Sep;28(3):199-206. doi: 10.1111/j.1399-0004.1985.tb00387.x.
7
Galactose and cataract.半乳糖与白内障。
Surv Ophthalmol. 1988 Mar-Apr;32(5):333-49. doi: 10.1016/0039-6257(88)90095-1.
8
Inexplicable infantile cataracts and partial maternal galactose disorder.不明原因的婴儿白内障和部分母体半乳糖代谢紊乱。
Arch Dis Child. 1986 May;61(5):445-8. doi: 10.1136/adc.61.5.445.
9
Plasma polyol levels in patients with cataract.
J Inherit Metab Dis. 1990;13(4):517-22. doi: 10.1007/BF01799509.
10
A method for galactose-1-phosphate uridyltransferase assay and the separation of its isozymes by DEAE-cellulose column chromatography.一种用于1-磷酸半乳糖尿苷转移酶测定及其同工酶通过二乙氨基乙基纤维素柱色谱法分离的方法。
Clin Chim Acta. 1976 Aug 2;70(3):371-7. doi: 10.1016/0009-8981(76)90349-1.