• 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

相似文献

1
Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.IV型糖原贮积病中的二羧酸尿症和继发性肉碱缺乏症。
Arch Dis Child. 1987 Oct;62(10):1066-7. doi: 10.1136/adc.62.10.1066.
2
A juvenile variant of glycogenosis IV (Andersen disease).
Eur J Pediatr. 1986 Aug;145(3):179-81. doi: 10.1007/BF00446059.
3
[Clinical and biochemical correlations in certain metabolic myopathies].[某些代谢性肌病的临床与生化相关性]
Bull Mem Acad R Med Belg. 1992;147(10):385-92; discussion 392-3.
4
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.IV型糖原贮积症继发的新生儿肌张力减退和心肌病。
Acta Neuropathol. 1994;87(5):531-6. doi: 10.1007/BF00294181.
5
[Metabolic adaptation during the intervals between food intake in children with glycogenosis types III and IV].[糖原贮积症III型和IV型患儿进食间隔期的代谢适应]
Pediatriia. 1987(7):51-5.
6
Disorders of glycogen and lipid metabolism.糖原与脂质代谢紊乱
Adv Neurol. 1977;17:123-42.
7
Transient carnitine-responsive medium-chain dicarboxylic aciduria in an infant with cholestasis, hypoglycemia and cardiac failure.一名患有胆汁淤积、低血糖和心力衰竭的婴儿出现的短暂性肉碱反应性中链二羧酸尿症。
Acta Paediatr Jpn. 1989 Apr;31(2):211-5. doi: 10.1111/j.1442-200x.1989.tb01291.x.
8
Nervous system involvement in type IV glycogenosis.
Arch Pathol Lab Med. 1979 Mar;103(3):105-11.
9
Hyperuricemia and dicarboxylicaciduria in glycogen storage disease.
Adv Exp Med Biol. 1973;41:361-6. doi: 10.1007/978-1-4684-3294-7_43.
10
Dietary-dependent carnitine deficiency as a cause of nonketotic hypoglycemia in an infant.
J Pediatr. 1981 Oct;99(4):551-5. doi: 10.1016/s0022-3476(81)80252-1.

引用本文的文献

1
Hepatocellular carcinoma in glycogen storage disease type IV.IV型糖原贮积病中的肝细胞癌
Arch Dis Child. 2000 Jun;82(6):479-80. doi: 10.1136/adc.82.6.479.
2
Cerebral blood flow velocity changes after rapid administration of surfactant.快速给予表面活性剂后脑血流速度的变化
Arch Dis Child. 1991 Oct;66(10 Spec No):1105-9. doi: 10.1136/adc.66.10_spec_no.1105.
3
Cerebral blood flow velocity changes after rapid administration of surfactant.快速给予表面活性剂后脑血流速度的变化
Arch Dis Child. 1992 Apr;67(4 Spec No):470. doi: 10.1136/adc.67.4_spec_no.470.

本文引用的文献

1
Dicarboxylic aciduria during ketotic phases in various types of glycogen storage disease.各类糖原贮积病酮症期的二羧酸尿症
Acta Paediatr Scand. 1981;70(3):309-13. doi: 10.1111/j.1651-2227.1981.tb16557.x.
2
Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.气相色谱-质谱联用（GC-MS）诊断两例中链酰基辅酶A脱氢酶缺乏症
J Inherit Metab Dis. 1984;7 Suppl 1:44-7. doi: 10.1007/BF03047373.
3
Carnitine metabolism and inborn errors.
J Inherit Metab Dis. 1984;7 Suppl 1:38-43. doi: 10.1007/BF03047372.
4
Nervous system involvement in type IV glycogenosis.
Arch Pathol Lab Med. 1979 Mar;103(3):105-11.

IV型糖原贮积病中的二羧酸尿症和继发性肉碱缺乏症。

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.

作者信息

Maaswinkel-Mooy P D, Poorthuis B J, van Gelderen H H, van de Kamp J J

机构信息

Department of Paediatrics, University Hospital, Leiden, The Netherlands.

出版信息

Arch Dis Child. 1987 Oct;62(10):1066-7. doi: 10.1136/adc.62.10.1066.

DOI:10.1136/adc.62.10.1066
PMID:3479053
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1778671/
Abstract

A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle strength.

摘要

一名3岁男孩患有一种异常轻微的IV型糖原贮积病。代谢研究显示脂肪酸和肉碱代谢存在严重异常。发现肌肉肉碱缺乏。口服L-肉碱治疗使肌肉力量有显著改善。