• 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

半乳糖血症的长期预后：350例病例的调查结果。

Long-term prognosis in galactosaemia: results of a survey of 350 cases.

作者信息

Waggoner D D, Buist N R, Donnell G N

机构信息

Crippled Children's Division, Oregon Health Sciences University, Portland 97201.

出版信息

J Inherit Metab Dis. 1990;13(6):802-18. doi: 10.1007/BF01800204.

DOI:10.1007/BF01800204
PMID:1706789
Abstract

An international survey of the long term results of treating galactosaemia has shown poor results. These do not seem to be related to any of the relevant variables studied, for example delayed diagnosis or poor dietary compliance.

摘要

一项关于半乳糖血症治疗长期结果的国际调查显示效果不佳。这些结果似乎与所研究的任何相关变量都无关，例如诊断延迟或饮食依从性差。

相似文献

1
Long-term prognosis in galactosaemia: results of a survey of 350 cases.半乳糖血症的长期预后：350例病例的调查结果。
J Inherit Metab Dis. 1990;13(6):802-18. doi: 10.1007/BF01800204.
2
Clouds still gathering over galactosaemia.
Lancet. 1994 Nov 5;344(8932):1242-3. doi: 10.1016/s0140-6736(94)90745-5.
3
Ophthalmic findings in classical galactosaemia--prospective study.经典型半乳糖血症的眼科检查结果——前瞻性研究
Br J Ophthalmol. 1993 Mar;77(3):162-4. doi: 10.1136/bjo.77.3.162.
4
Long-term outcome in 134 patients with galactosaemia.134例半乳糖血症患者的长期预后
Eur J Pediatr. 1993 Jan;152(1):36-43. doi: 10.1007/BF02072514.
5
Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia.
J Pediatr. 1988 May;112(5):754-6. doi: 10.1016/s0022-3476(88)80697-8.
6
Galactosaemia: relationship of IQ to biochemical control and genotype.
J Inherit Metab Dis. 1995;18(2):151-2. doi: 10.1007/BF00711752.
7
Duarte galactosemia: how sweet is it?杜阿尔特半乳糖血症：它有多“甜”？
Clin Chem. 2010 Jul;56(7):1045-6. doi: 10.1373/clinchem.2010.147371. Epub 2010 May 20.
8
[Galactose 1-phosphate level in children with various types of hexosephosphate uridylyltransferase deficiency].[不同类型磷酸己糖尿苷酰转移酶缺乏症患儿的1-磷酸半乳糖水平]
Pediatr Pol. 1985 Sep;60(9):631-7.
9
Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations.半乳糖血症治疗的生化监测：代谢物浓度的生物学变异性
J Inherit Metab Dis. 1999 Apr;22(2):139-48. doi: 10.1023/a:1005493701913.
10
High tolerance for oral galactose in classical galactosaemia: dietary implications.经典型半乳糖血症患者对口服半乳糖的高耐受性：饮食方面的影响
Arch Dis Child. 2004 Nov;89(11):1034-6. doi: 10.1136/adc.2003.037671.

引用本文的文献

1
Simultaneous, dual-target, bilateral deep brain stimulation for treatment of galactosemia-induced dystonia and tremor in a pediatric patient.同步双靶点双侧脑深部电刺激治疗一名儿科患者的半乳糖血症诱发的肌张力障碍和震颤
Childs Nerv Syst. 2025 Aug 7;41(1):255. doi: 10.1007/s00381-025-06921-2.
2
A Pilot Study of Bone Marrow Transplantation in a GALT-Null Rat Model of Classic Galactosemia.经典半乳糖血症GALT基因缺失大鼠模型中骨髓移植的初步研究。
JIMD Rep. 2025 Jul 11;66(4):e70037. doi: 10.1002/jmd2.70037. eCollection 2025 Jul.
3
Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.

本文引用的文献

1
Growth and development of children with galactosemia.半乳糖血症患儿的生长与发育
J Pediatr. 1961 Jun;58:836-44. doi: 10.1016/s0022-3476(61)80139-x.
2
Speech and language deficits in early-treated children with galactosemia.早期接受治疗的半乳糖血症患儿的言语和语言缺陷
J Pediatr. 1983 Jan;102(1):75-7. doi: 10.1016/s0022-3476(83)80292-3.
3
Hypergonadotropic hypogonadism in female patients with galactosemia.半乳糖血症女性患者的高促性腺激素性性腺功能减退
爱尔兰共和国对典型半乳糖血症进行新生儿血斑筛查50年后的临床和发育结局
JIMD Rep. 2025 May 26;66(3):e70022. doi: 10.1002/jmd2.70022. eCollection 2025 May.
4
Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.经典型半乳糖血症长期预后的外显率和表现度模式
J Inherit Metab Dis. 2025 May;48(3):e70020. doi: 10.1002/jimd.70020.
5
Health and well-being of maturing adults with classic galactosemia.患有典型半乳糖血症的成年人的健康与福祉。
J Inherit Metab Dis. 2025 Jan;48(1):e12786. doi: 10.1002/jimd.12786. Epub 2024 Aug 14.
6
Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia.在经典半乳糖血症小鼠模型中，半乳糖激酶1是导致1-磷酸半乳糖升高的原因，脑苷脂也略有减少。
JIMD Rep. 2024 Jun 23;65(4):280-294. doi: 10.1002/jmd2.12438. eCollection 2024 Jul.
7
Natural history of three late-diagnosed classic Galactosemia patients.三名迟发性经典型半乳糖血症患者的自然病史。
Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar.
8
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.来自艾伯塔省一个代谢遗传学中心的I型半乳糖血症患者的临床和生化表型、基因型及长期预后
Mol Genet Metab Rep. 2024 Jan 25;38:101055. doi: 10.1016/j.ymgmr.2024.101055. eCollection 2024 Mar.
9
Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report.未经治疗的典型半乳糖血症：成人迟发性进行性小脑共济失调的罕见病因——病例报告
Case Rep Neurol. 2024 Feb 7;16(1):55-62. doi: 10.1159/000536679. eCollection 2024 Jan-Dec.
10
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients.经典型半乳糖血症患者的神经心理稳定性：10例成年患者的初步研究
JIMD Rep. 2024 Jan 9;65(2):110-115. doi: 10.1002/jmd2.12410. eCollection 2024 Mar.
N Engl J Med. 1981 Apr 23;304(17):994-8. doi: 10.1056/NEJM198104233041702.
4
Clouds over galactosaemia.半乳糖血症疑云。
Lancet. 1982 Dec 18;2(8312):1379-80.
5
Long-term follow-up of galactosaemia.半乳糖血症的长期随访
Arch Dis Child. 1970 Jun;45(241):367-73. doi: 10.1136/adc.45.241.367.
6
Psychoeducational findings among children treated for phenylketonuria.接受苯丙酮尿症治疗儿童的心理教育研究结果。
Am J Ment Defic. 1987 Jul;92(1):65-73.
7
Declining IQs of young males with the fragile X syndrome.
Am J Ment Retard. 1987 Nov;92(3):272-8.
8
Galactosaemia.
Nutr Health. 1987;5(3-4):175-88. doi: 10.1177/026010608700500408.
9
Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.编码人1-磷酸半乳糖尿苷酰转移酶的cDNA的克隆与鉴定
Mol Biol Med. 1988 Apr;5(2):107-22.
10
Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia.
J Pediatr. 1988 May;112(5):754-6. doi: 10.1016/s0022-3476(88)80697-8.