• 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

3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症一例的CT表现

CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase.

作者信息

Lisson G, Leupold D, Bechinger D, Wallesch C

出版信息

Neuroradiology. 1981;22(2):99-101. doi: 10.1007/BF00344781.

DOI:10.1007/BF00344781
PMID:6170906
Abstract

Two CT scans have been performed on a child with a biochemically confirmed 3-HMG-CoA-lyase deficiency. Macrocephalus, widespread hypodensity of the white matter with cystic alterations and progressive dilatation of the ventricles were found. The clinical features and CT findings are surprisingly similar to findings in patients with spongy degeneration (Canavan).

摘要

已对一名经生化确诊为3-β-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的儿童进行了两次CT扫描。发现患儿有巨头畸形、广泛的白质低密度伴囊性改变以及脑室进行性扩张。其临床特征和CT表现与海绵状变性(卡纳万病)患者的表现惊人地相似。

相似文献

1
CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症一例的CT表现
Neuroradiology. 1981;22(2):99-101. doi: 10.1007/BF00344781.
2
Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.一名3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患儿的临床及生化观察
J Inherit Metab Dis. 1980;3(3):89-90. doi: 10.1007/BF02312535.
3
3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.3-甲基-3-丁烯酸:3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患者尿液代谢模式中的一种假象。
Clin Chim Acta. 1980 Sep 8;106(1):85-9. doi: 10.1016/0009-8981(80)90377-0.
4
3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography.3-羟基-3-甲基戊二酸尿症:一种使用高效液相色谱法检测3-羟基-3-甲基戊二酰辅酶A裂解酶的新方法。
Clin Chim Acta. 1982 Dec 9;126(2):171-81. doi: 10.1016/0009-8981(82)90033-x.
5
Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins.气相色谱/质谱法检测双重一级表亲中的3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症。
Clin Chem. 1982 Jan;28(1):137-40.
6
3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine.
J Pediatr. 1979 Dec;95(6):1004-7. doi: 10.1016/s0022-3476(79)80297-8.
7
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症:18例报告患者的综述
Eur J Pediatr. 1988 Dec;148(3):180-6. doi: 10.1007/BF00441397.
8
Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography.高效液相色谱法对3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的酶学诊断
Clin Chim Acta. 1990 Aug 31;189(3):297-301. doi: 10.1016/0009-8981(90)90311-f.
9
Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase.
Clin Chim Acta. 1979 Jul 2;95(1):11-16. doi: 10.1016/0009-8981(79)90330-9.
10
3-Hydroxy-3-methylglutaric aciduria.3-羟基-3-甲基戊二酸尿症
J Neurogenet. 1984 Apr;1(2):165-73. doi: 10.3109/01677068409107082.

引用本文的文献

1
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.3-羟-3-甲基戊二酰辅酶 A 裂解酶缺乏症:一种疾病,多种表现。
Orphanet J Rare Dis. 2020 Feb 14;15(1):48. doi: 10.1186/s13023-020-1319-7.
2
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult.3-羟-3-甲基戊二酰辅酶 A 裂解酶缺乏症:青年成人的首发表现。
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S49-52. doi: 10.1007/s10545-009-1048-5. Epub 2009 Feb 24.
3
Molecular basis of 3-hydroxy-3-methylglutaric aciduria.3-羟基-3-甲基戊二酸尿症的分子基础

本文引用的文献

1
SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM: CASE OF HOMOCYSTINURIA.中枢神经系统海绵状变性:同型胱氨酸尿症病例
Arch Pathol. 1965 Apr;79:357-63.
2
[MAPLE SYRUP DISEASE WITH FAMILIAL INCIDENCE].[家族性发病率的枫糖尿症]
Virchows Arch Pathol Anat Physiol Klin Med. 1964 May 22;337:425-45.
3
A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings.一例因二氢蝶啶还原酶缺乏导致的高苯丙氨酸血症的同胞病例:生化及病理结果
J Physiol Biochem. 2003 Dec;59(4):311-21. doi: 10.1007/BF03179889.
4
Biochemistry and molecular biology of Canavan disease.卡纳万病的生物化学与分子生物学
Neurochem Res. 1999 Apr;24(4):507-13. doi: 10.1023/a:1022531829100.
5
Cerebral MRI in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report.
Neuroradiology. 1993;35(7):559-60. doi: 10.1007/BF00588725.
6
The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood.CT在儿童不同先天性神经退行性疾病诊断及预后评估中的价值。
J Neurol. 1984;231(2):57-70. doi: 10.1007/BF00313718.
7
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症:18例报告患者的综述
Eur J Pediatr. 1988 Dec;148(3):180-6. doi: 10.1007/BF00441397.
8
3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia.沙特阿拉伯的3-羟基-3-甲基戊二酰辅酶A(HMG-CoA)裂解酶缺乏症。
J Inherit Metab Dis. 1991;14(2):174-88. doi: 10.1007/BF01800590.
Tohoku J Exp Med. 1980 Oct;132(2):123-31. doi: 10.1620/tjem.132.123.
4
Computed tomography in Alexander's disease.亚历山大病的计算机断层扫描
Neuroradiology. 1980;20(2):103-6. doi: 10.1007/BF00339556.
5
Neuropathology of phenylketonuria.苯丙酮尿症的神经病理学
J Neuropathol Exp Neurol. 1966 Apr;25(2):254-68. doi: 10.1097/00005072-196604000-00006.
6
The infantile spongy degenerations.
Neurology. 1968 Feb;18(2):153-66. doi: 10.1212/wnl.18.2.153.
7
[Argininosuccinic aciduria disease of the newborn with lethal course].[新生儿精氨琥珀酸尿症,病程致死]
Helv Paediatr Acta. 1968 Feb;23(1):77-106.
8
The pathogenesis of mental retardation in phenylketonuria and other inborn errors of amino acid metabolism.
Pediatrics. 1967 Feb;39(2):297-308.
9
[Non-ketotic hyperglycinaemia. Clinical treatment, diet, and pathologico-anatomic changes (author's transl)].
Z Kinderheilkd. 1974 Jan 17;116(2):95-114.
10
Letter: Patient with defect in leucine metabolism.信件:患有亮氨酸代谢缺陷的患者。
N Engl J Med. 1976 Apr 29;294(18):1013. doi: 10.1056/nejm197604292941823.