• 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

Guidelines for the management of mucopolysaccharidosis type I.

作者信息

Martins Ana Maria, Dualibi Ana Paula, Norato Denise, Takata Edna Tiemi, Santos Emerson S, Valadares Eugênia Ribeiro, Porta Gilda, de Luca Gisele, Moreira Gustavo, Pimentel Helena, Coelho Janice, Brum Jaime Moritz, Semionato Filho José, Kerstenetzky Marcelo Soares, Guimarães Márcia R, Rojas Maria Verónica Muñoz, Aranda Paulo Cesar, Pires Ricardo Flores, Faria Rodrigo G C, Mota Ronald Moura Vale, Matte Ursula, Guedes Zelita Caldeira Ferreira

机构信息

Centro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo, São Paulo, Brazil.

出版信息

J Pediatr. 2009 Oct;155(4 Suppl):S32-46. doi: 10.1016/j.jpeds.2009.07.005.

DOI:10.1016/j.jpeds.2009.07.005
PMID:19765409
Abstract
摘要

相似文献

1
Guidelines for the management of mucopolysaccharidosis type I.I型黏多糖贮积症管理指南。
J Pediatr. 2009 Oct;155(4 Suppl):S32-46. doi: 10.1016/j.jpeds.2009.07.005.
2
[Consensus on mucopolysaccharidosis type I diagnosis and treatment].[黏多糖贮积症 I 型诊断与治疗共识]
Arch Argent Pediatr. 2008 Aug;106(4):361-8. doi: 10.1590/S0325-00752008000400014.
3
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.Ⅰ型黏多糖贮积症新生儿筛查：诊断与管理的最佳实践
J Pediatr. 2017 Mar;182:363-370. doi: 10.1016/j.jpeds.2016.11.036. Epub 2016 Dec 7.
4
Mucopolysaccharidosis I: management and treatment guidelines.黏多糖贮积症 I 型：管理与治疗指南
Pediatrics. 2009 Jan;123(1):19-29. doi: 10.1542/peds.2008-0416.
5
[Expert consensus for diagnosis and treatment of mucopolysaccharidosis type Ⅰ (2022)].Ⅰ型黏多糖贮积症诊疗专家共识（2022年）
Zhonghua Er Ke Za Zhi. 2023 Mar 2;61(3):203-208. doi: 10.3760/cma.j.cn112140-20220905-00780.
6
Hurler syndrome: past, present, and future.黏多糖贮积症Ⅰ型：过去、现在与未来。
J Pediatr. 1998 Jul;133(1):7-9. doi: 10.1016/s0022-3476(98)70170-2.
7
New recommendations for the care of patients with mucopolysaccharidosis type I.I 型黏多糖贮积症患者护理的新建议。
Arch Argent Pediatr. 2021 Apr;119(2):e121-e128. doi: 10.5546/aap.2021.eng.e121.
8
[Experience with the use of long-term catheter placement in patients with mucopolysaccharidosis type I].[I型黏多糖贮积症患者长期导管置入的应用经验]
Rev Med Inst Mex Seguro Soc. 2012 Sep-Oct;50(5):469-70.
9
[On differentiating dysostosis Morquio from gargoylism as an independent disease].[关于将莫尔基奥综合征与黏多糖贮积症Ⅱ型作为一种独立疾病进行鉴别诊断]
Ann Paediatr. 1954 Feb;182(2):107-26; contd.
10
[Differentiation of Morquio's dysostosis as an independent pathological picture from gargoylism].[将黏多糖贮积症IV型骨发育不全作为一种独立的病理表现与承溜病进行鉴别]
Ann Paediatr. 1954 Mar;182(3):127-40; concl.

引用本文的文献

1
"Mucopolysaccharidosis syndrome in a 9-Year-old boy: oral-dental management and diagnostic considerations": a case report.《9 岁男孩黏多糖贮积症：口腔牙科管理和诊断注意事项》：病例报告。
BMC Oral Health. 2024 Sep 27;24(1):1140. doi: 10.1186/s12903-024-04859-6.
2
Dental Profile of Brazilian Patients with Rare Skeletal Genetic Disorders: Clinical Features and Associated Factors.患有罕见骨骼遗传疾病的巴西患者的口腔状况：临床特征及相关因素
Healthcare (Basel). 2024 May 19;12(10):1046. doi: 10.3390/healthcare12101046.
3
Enzyme replacement with transferrin receptor-targeted α-L-iduronidase rescues brain pathology in mucopolysaccharidosis I mice.
用转铁蛋白受体靶向的α-L-艾杜糖醛酸酶进行酶替代可挽救黏多糖贮积症I型小鼠的脑部病变。
Mol Ther Methods Clin Dev. 2023 May 12;29:439-449. doi: 10.1016/j.omtm.2023.05.010. eCollection 2023 Jun 8.
4
Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report.以持续性新生儿呼吸窘迫为表现的I型黏多糖贮积症：一例报告
Diseases. 2023 Apr 28;11(2):67. doi: 10.3390/diseases11020067.
5
Mucopolysaccharidosis Type I in Mexico: Case-Based Review.墨西哥的I型黏多糖贮积症：基于病例的综述。
Children (Basel). 2023 Mar 30;10(4):642. doi: 10.3390/children10040642.
6
Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.患者同时患有色素性视网膜炎和先天小眼球，亨特氏综合征症状减弱。
Doc Ophthalmol. 2023 Jun;146(3):273-279. doi: 10.1007/s10633-023-09924-z. Epub 2023 Feb 20.
7
Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo.循环 C 型利钠肽可减少体内黏多糖贮积症相关的颅面发育不全。
PLoS One. 2022 Nov 10;17(11):e0277140. doi: 10.1371/journal.pone.0277140. eCollection 2022.
8
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system.一种在心血管系统中具有更高活性的新型融合艾杜糖醛酸酶的鉴定。
Mol Genet Metab Rep. 2022 Sep 18;33:100917. doi: 10.1016/j.ymgmr.2022.100917. eCollection 2022 Dec.
9
Anaesthetic Management in Mucopolysaccharidoses Patients: Clinical Experience in a Tertiary Hospital.黏多糖贮积症患者的麻醉管理：一家三级医院的临床经验
Cureus. 2022 Jul 30;14(7):e27474. doi: 10.7759/cureus.27474. eCollection 2022 Jul.
10
Heart valve disease in Hurler-Scheie syndrome.黏多糖贮积症Ⅰ-H型中的心脏瓣膜病
Cardiol J. 2022;29(5):875-877. doi: 10.5603/CJ.a2022.0066. Epub 2022 Jul 12.