• 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

Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types.

作者信息

Angelini C, Engel A G

出版信息

Arch Neurol. 1972 Apr;26(4):344-9. doi: 10.1001/archneur.1972.00490100074007.

DOI:10.1001/archneur.1972.00490100074007
PMID:4501990
Abstract
摘要

相似文献

1
Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types.酸性麦芽糖酶缺乏症的比较研究。婴儿型、儿童型和成人型之间的生化差异。
Arch Neurol. 1972 Apr;26(4):344-9. doi: 10.1001/archneur.1972.00490100074007.
2
Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease.II型糖原贮积病患儿组织中同时缺乏α-1,4-葡萄糖苷酶和α-1,6-葡萄糖苷酶活性(pH 4)
Biochemistry. 1970 Mar 17;9(6):1423-8. doi: 10.1021/bi00808a017.
3
Type 3 glycogenosis. A biochemical and electron microscopic study.III型糖原贮积病。一项生化与电子显微镜研究。
Lab Invest. 1970 May;22(5):468-77.
4
[Enzymatic diagnosis of inherited metabolic disturbances].[遗传性代谢紊乱的酶学诊断]
Lakartidningen. 1969 Mar 26;66(13):1335-47.
5
Studies in glycogen storage disease. 3. Limit dextrinosis: a genetic study.糖原贮积病研究。3. 界限糊精病:一项遗传学研究。
J Pediatr. 1968 Feb;72(2):214-21. doi: 10.1016/s0022-3476(68)80311-7.
6
Enzyme patterns in glycogen storage disease type II (Pompe's disease).II型糖原贮积病(庞贝氏病)中的酶谱
Metabolism. 1966 Jul;15(7):641-8. doi: 10.1016/0026-0495(66)90125-9.
7
[Regulation of glycogen metabolism].[糖原代谢的调节]
Biokhimiia. 1970 Mar-Apr;35(2):356-65.
8
The maltase, glucoamylase and transglucosylase activities of acid -glucosidase from rabbit muscle.兔肌肉酸性葡萄糖苷酶的麦芽糖酶、葡糖淀粉酶和转葡糖基酶活性
Biochem J. 1971 Oct;124(4):713-24. doi: 10.1042/bj1240713.
9
Branching enzyme-deficiency glycogenosis: studies in therapy.分支酶缺乏性糖原贮积症:治疗研究
Arch Dis Child. 1968 Jun;43(229):347-52. doi: 10.1136/adc.43.229.347.
10
Residual acid maltase activity in late-onset acid maltase deficiency.晚发型酸性麦芽糖酶缺乏症中的残余酸性麦芽糖酶活性
Neurology. 1977 Feb;27(2):178-84. doi: 10.1212/wnl.27.2.178.

引用本文的文献

1
Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease.广泛的数字健康技术评估可检测出轻度和无症状庞贝病中的细微运动障碍。
Sci Rep. 2025 Aug 14;15(1):29798. doi: 10.1038/s41598-025-14993-y.
2
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.一位 53 岁男性患者表现出非典型的糖原贮积病表型,同时患有磷酸化酶激酶缺乏症(GSD 型 IXd)和α-糖苷酶缺乏症(GSD 型 II),实属罕见。
Acta Myol. 2024 Feb 21;43(1):21-26. doi: 10.36185/2532-1900-411. eCollection 2024.
3
A Comprehensive Update on Late-Onset Pompe Disease.
晚期庞贝病的全面更新。
Biomolecules. 2023 Aug 22;13(9):1279. doi: 10.3390/biom13091279.
4
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.庞贝病和其他代谢性肌病的治疗进展。
Ther Adv Neurol Disord. 2013 Sep;6(5):311-21. doi: 10.1177/1756285613487570.
5
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II.糖原贮积病 II 型酶替代治疗的进展。
Ther Adv Neurol Disord. 2009 May;2(3):143-53. doi: 10.1177/1756285609103324.
6
The natural course of non-classic Pompe's disease; a review of 225 published cases.非典型庞贝氏病的自然病程;对225例已发表病例的综述
J Neurol. 2005 Aug;252(8):875-84. doi: 10.1007/s00415-005-0922-9.
7
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.多学科方法治疗两例非典型婴儿型糖原贮积症Ⅱ型的疗效
J Inherit Metab Dis. 2003;26(7):675-81. doi: 10.1023/b:boli.0000005618.76542.ed.
8
Immunohistochemical demonstration of acid alpha-glucosidase in muscle in Pompe's disease.庞贝病中肌肉酸性α-葡萄糖苷酶的免疫组织化学显示
Histochem J. 1983 Jun;15(6):601-4. doi: 10.1007/BF01954150.
9
[Myopathy due to acid maltase deficiency. Pompe's disease in adolescence and adult (author's transl)].酸性麦芽糖酶缺乏所致肌病。青少年及成人庞贝病(作者译)
Arch Psychiatr Nervenkr (1970). 1974;218(2):93-106. doi: 10.1007/BF00343162.
10
[Plasma cell inclusions in acid maltase deficiency (author's transl)].酸性麦芽糖酶缺乏症中的浆细胞包涵体(作者译)
Klin Wochenschr. 1974 Jul 1;52(13):653-4. doi: 10.1007/BF01468804.