• 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

Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.

作者信息

Van Calcar S C, Harding C O, Davidson S R, Barness L A, Wolff J A

机构信息

Department of Pediatrics and Medical Genetics, Waisman Center on Mental Retardation and Human Development, University Hospital and Clinics, Madison, WI.

出版信息

Am J Med Genet. 1992 Nov 15;44(5):641-6. doi: 10.1002/ajmg.1320440523.

DOI:10.1002/ajmg.1320440523
PMID:1481826
Abstract

We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies. Healthy infants were delivered without maternal metabolic decompensation.

摘要

相似文献

1
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.
Am J Med Genet. 1992 Nov 15;44(5):641-6. doi: 10.1002/ajmg.1320440523.
2
Anaplerotic therapy in propionic acidemia.丙酸血症的氨补充治疗。
Mol Genet Metab. 2017 Sep;122(1-2):51-59. doi: 10.1016/j.ymgme.2017.07.003. Epub 2017 Jul 12.
3
[Dietary treatment of maple syrup urine diseases].[枫糖尿症的饮食治疗]
Pediatrie. 1993;48(10):681-6.
4
The management and long term outcome of organic acidaemias.有机酸血症的管理与长期预后
J Inherit Metab Dis. 1984;7 Suppl 1:13-7. doi: 10.1007/BF03047367.
5
New conjugated urinary metabolites in intermediate type maple syrup urine disease.
Clin Chim Acta. 1987 Oct 30;169(1):77-83. doi: 10.1016/0009-8981(87)90395-0.
6
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.16 名患有 PCCB c.1606A>G(p.Asn536Asp)变异丙酸血症个体的生化表型及其与治疗的关系。
Mol Genet Metab. 2020 Nov;131(3):316-324. doi: 10.1016/j.ymgme.2020.09.006. Epub 2020 Oct 3.
7
Increased urinary metabolite excretion during fasting in disorders of propionate metabolism.在丙酸代谢紊乱时,禁食期间尿代谢产物排泄增加。
Pediatr Res. 1990 Apr;27(4 Pt 1):413-6. doi: 10.1203/00006450-199004000-00021.
8
[Maple syrup urine disease: report of a mild variant case and results of dietary treatment].[枫糖尿症:1例轻度变异型病例报告及饮食治疗结果]
Pediatria (Napoli). 1978 Sep 30;86(3):409-20.
9
Intermittent neurological symptoms in a girl with a maple syrup urine disease (MSUD) variant.
Neuropediatrics. 1980 Nov;11(4):377-83. doi: 10.1055/s-2008-1071404.
10
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.发展中国家氨基酸病和有机酸血症的诊断挑战:十二年经验。
Clin Biochem. 2013 Dec;46(18):1787-92. doi: 10.1016/j.clinbiochem.2013.08.009. Epub 2013 Aug 28.

引用本文的文献

1
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.阿米什成年人丙酸血症的诊断及妊娠结局:病例系列
Mol Genet Metab Rep. 2024 Nov 20;41:101161. doi: 10.1016/j.ymgmr.2024.101161. eCollection 2024 Dec.
2
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.妊娠期有机酸尿症:代谢方面的概述
Metabolites. 2023 Apr 4;13(4):518. doi: 10.3390/metabo13040518.
3
Pregnancy in an adolescent with maple syrup urine disease: Case report.一名患有枫糖尿症的青少年怀孕:病例报告。
Mol Genet Metab Rep. 2021 Mar 26;27:100745. doi: 10.1016/j.ymgmr.2021.100745. eCollection 2021 Jun.
4
Nutrient management in the intrapartum period in maternal maple syrup urine disease.患有枫糖尿症的产妇产时的营养管理
Mol Genet Metab Rep. 2021 Jan 29;26:100711. doi: 10.1016/j.ymgmr.2021.100711. eCollection 2021 Mar.
5
Impact of pregnancy on inborn errors of metabolism.妊娠对先天性代谢缺陷的影响。
Rev Endocr Metab Disord. 2018 Mar;19(1):13-33. doi: 10.1007/s11154-018-9455-2.
6
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.枫糖尿症患者的成功妊娠:病例报告及文献复习。
Nutr J. 2018 May 12;17(1):51. doi: 10.1186/s12937-018-0357-7.
7
Organic acidurias in adults: late complications and management.成人有机酸血症:晚期并发症与治疗。
J Inherit Metab Dis. 2018 Sep;41(5):765-776. doi: 10.1007/s10545-017-0135-2. Epub 2018 Jan 15.
8
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.阿米什社区一名患有丙酸血症的女性成功怀孕并分娩。
Mol Genet Metab Rep. 2016 Jun 2;8:4-7. doi: 10.1016/j.ymgmr.2016.05.003. eCollection 2016 Sep.
9
Pregnancy in women with inherited metabolic disease.患有遗传性代谢疾病的女性怀孕情况。
Obstet Med. 2015 Jun;8(2):61-7. doi: 10.1177/1753495X15576442. Epub 2015 Mar 29.
10
Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD.二甲双胍可抑制支链氨基酸(BCAA)衍生的酮酸中毒,并促进 MSUD 中的代谢平衡。
Sci Rep. 2016 Jul 4;6:28775. doi: 10.1038/srep28775.