• 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

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.

作者信息

Sly W S, Quinton B A, McAlister W H, Rimoin D L

出版信息

J Pediatr. 1973 Feb;82(2):249-57. doi: 10.1016/s0022-3476(73)80162-3.

DOI:10.1016/s0022-3476(73)80162-3
PMID:4265197
Abstract
摘要

相似文献

1
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.β-葡萄糖醛酸酶缺乏症:一种新型黏多糖贮积症的临床、放射学及生化特征报告
J Pediatr. 1973 Feb;82(2):249-57. doi: 10.1016/s0022-3476(73)80162-3.
2
A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.α -葡糖醛酸酶缺乏性黏多糖贮积症:培养成纤维细胞的研究
Arch Biochem Biophys. 1973 Mar;155(1):32-8. doi: 10.1016/s0003-9861(73)80006-2.
3
Beta-glucuronidase deficiency mucopolysaccharidosis.β-葡萄糖醛酸酶缺乏性黏多糖贮积症
Birth Defects Orig Artic Ser. 1974;10(12):239-45.
4
Mucopolysaccharidosis.黏多糖贮积症
Proc R Soc Med. 1972 Apr;65(4):339-41. doi: 10.1177/003591577206500412.
5
Mucopolysaccharide storage diseases and lysosomal hydrolases in cultured fibroblasts.培养成纤维细胞中的黏多糖贮积病和溶酶体水解酶
Pathol Eur. 1973;8(1):3-11.
6
Multiple lysosomal enzyme deficiency due to enzyme leakage?酶泄漏导致多种溶酶体酶缺乏?
N Engl J Med. 1971 Jan 14;284(2):109-10. doi: 10.1056/NEJM197101142840221.
7
Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency.黏多糖贮积症VII型。β-葡萄糖醛酸酶缺乏症。
Humangenetik. 1974 Jul 15;23(2):149-58. doi: 10.1007/BF00282212.
8
Neurovisceral storage disease: roentgenographic features and mode of inheritance.
Am J Roentgenol Radium Ther Nucl Med. 1968 May;103(1):149-53.
9
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.马罗-拉米综合征培养成纤维细胞中的芳基硫酸酯酶B缺乏症
Biochem Biophys Res Commun. 1974 Jul 24;59(2):455-61. doi: 10.1016/s0006-291x(74)80001-x.
10
Variation in the phenotypic expression of beta-glucuronidase deficiency.β-葡萄糖醛酸酶缺乏症的表型表达变异。
J Pediatr. 1975 Mar;86(3):388-94. doi: 10.1016/s0022-3476(75)80968-1.

引用本文的文献

1
Radiographic assessment of mucopolysaccharidoses: A pictorial review.黏多糖贮积症的影像学评估:图文综述
World J Clin Pediatr. 2025 Sep 9;14(3):102898. doi: 10.5409/wjcp.v14.i3.102898.
2
Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case.黏多糖贮积症VII型的酶替代疗法:首例台湾患者的三年临床疗效研究
Diagnostics (Basel). 2025 Feb 14;15(4):464. doi: 10.3390/diagnostics15040464.
3
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
新型纵向多中心疾病监测项目中,威斯塔霉素治疗黏多糖贮积症 VII 型患者的疾病特征、疗效和安全性。
Orphanet J Rare Dis. 2024 May 7;19(1):189. doi: 10.1186/s13023-024-03176-z.
4
A homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.GUSB基因的纯合错义突变导致一个因胎儿非免疫性水肿而有两次不良妊娠结局的家庭被诊断为黏多糖贮积症VII型。
Mol Genet Metab Rep. 2023 Dec 6;38:101033. doi: 10.1016/j.ymgmr.2023.101033. eCollection 2024 Mar.
5
Recent Advances in In Vivo Somatic Cell Gene Modification in Newborn Pups.新生幼仔体内活体体细胞基因修饰的最新进展。
Int J Mol Sci. 2023 Oct 18;24(20):15301. doi: 10.3390/ijms242015301.
6
Growth patterns in patients with mucopolysaccharidosis VII.黏多糖贮积症VII型患者的生长模式
Mol Genet Metab Rep. 2023 Jun 26;36:100987. doi: 10.1016/j.ymgmr.2023.100987. eCollection 2023 Sep.
7
A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites.一名患有VII型黏多糖贮积症并伴有顽固性腹水的新生儿。
AJP Rep. 2023 Mar 16;13(1):e25-e28. doi: 10.1055/a-2028-7784. eCollection 2023 Jan.
8
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).黏多糖贮积症VII型(斯利综合征)的诊断与新兴治疗策略
Ther Clin Risk Manag. 2022 Dec 22;18:1143-1155. doi: 10.2147/TCRM.S351300. eCollection 2022.
9
Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs.酶替代疗法对黏多糖贮积症VII型犬骨骼疾病进展的剂量依赖性效应。
Mol Ther Methods Clin Dev. 2022 Nov 23;28:12-26. doi: 10.1016/j.omtm.2022.11.006. eCollection 2023 Mar 9.
10
Synthesis of 2-Aminopyrimidine Derivatives and Their Evaluation as -Glucuronidase Inhibitors: In Vitro and In Silico Studies.合成 2-氨基嘧啶衍生物及其作为 -葡萄糖醛酸苷酶抑制剂的评价:体外和计算研究。
Molecules. 2022 Nov 11;27(22):7786. doi: 10.3390/molecules27227786.