• 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

[成人溶酶体和过氧化物酶体酶病及糖原贮积病。I. 在内科、皮肤科、骨科和眼科领域以主要症状为主的酶病]

[Adult lysosomal and peroxisomal enzyme diseases and glycogenoses. I. Enzyme diseases with predominant symptoms in the fields of internal medicine, dermatology, orthopedics and ophthalmology].

作者信息

Elleder M

机构信息

Hlavův I. patologicko-anatomický ústav, 1. lékarské fakulty, Univerzita Karlova, Praha, Czech Republic.

出版信息

Sb Lek. 1994;95(3):221-30.

PMID:8711352
Abstract

Thanks to ever increasing incidence of late onset genetic metabolic disorders a comprehensive survey is given of the adult lysosomal and peroximal enzymopathies including adult type glycogenoses. For the sake of maximal practical utility the classical enzyme defect scheme was abandoned. The disorders are referred according to the leading symptomatology by which they enter the diagnostic process. In this part the entities are dealt with having symptomatology belonging to the field of internal medicine, dermatology, orthopedy and ophthalmology.

摘要

由于迟发性遗传代谢疾病的发病率不断上升,本文对成人溶酶体和过氧化物酶体酶病进行了全面综述,包括成人型糖原贮积病。为了实现最大的实际应用价值,摒弃了经典的酶缺陷分类法。这些疾病根据其在诊断过程中呈现的主要症状进行分类。在这一部分中,将讨论那些症状涉及内科、皮肤科、骨科和眼科领域的疾病。

相似文献

1
[Adult lysosomal and peroxisomal enzyme diseases and glycogenoses. I. Enzyme diseases with predominant symptoms in the fields of internal medicine, dermatology, orthopedics and ophthalmology].[成人溶酶体和过氧化物酶体酶病及糖原贮积病。I. 在内科、皮肤科、骨科和眼科领域以主要症状为主的酶病]
Sb Lek. 1994;95(3):221-30.
2
[Adult lysosomal and peroxisomal enzyme diseases and glycogenoses. II. Enzyme diseases with predominant psychiatric and neurologic symptoms].[成人溶酶体和过氧化物酶体酶病及糖原贮积病。II. 以精神和神经症状为主的酶病]
Sb Lek. 1994;95(3):231-8.
3
[Adult-onset metabolic diseases].[成人起病的代谢性疾病]
An Sist Sanit Navar. 2008;31 Suppl 2:75-89.
4
Mass spectrometry in the study of lysosomal storage disorders.溶酶体贮积症研究中的质谱分析
Cell Mol Biol (Noisy-le-grand). 2003 Jul;49(5):769-77.
5
New concepts in the diagnosis and treatment of lysosomal and peroxisomal disorders.溶酶体和过氧化物酶体疾病诊断与治疗的新概念
Curr Opin Neurol Neurosurg. 1992 Jun;5(3):355-8.
6
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.溶酶体贮积症和过氧化物酶体疾病患者的患病率:日本全国性调查
Mol Genet Metab. 2021 Jul;133(3):277-288. doi: 10.1016/j.ymgme.2021.05.004. Epub 2021 May 12.
7
Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases.涉及复杂分子的先天性代谢缺陷:溶酶体和过氧化物酶体贮积症。
Pediatr Clin North Am. 2018 Apr;65(2):353-373. doi: 10.1016/j.pcl.2017.11.011.
8
Lysosomal storage diseases as differential diagnoses to rheumatic disorders.溶酶体贮积症作为风湿性疾病的鉴别诊断。
Curr Opin Rheumatol. 2008 Jan;20(1):76-81. doi: 10.1097/BOR.0b013e3282f169fe.
9
[Lysosomal storage diseases for physicians: diagnosis and treatment].《医师的溶酶体贮积症:诊断与治疗》
Rinsho Ketsueki. 2007 Oct;48(10):1428-9.
10
Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases.在遗传性溶酶体疾病的实验室诊断中,培养细胞中甲胺的积累作为水性储存区室的一种衡量指标。
Am J Med Genet. 1996 May 3;63(1):198-202. doi: 10.1002/(SICI)1096-8628(19960503)63:1<198::AID-AJMG35>3.0.CO;2-H.