Hydroxocobalamin dose escalation improves metabolic control in cblC
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-009-1257-y.pdf
Reference21 articles.
1. Allen RH, Stabler SP, Lindenbaum J (1993) Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 42:1448–1460
2. Andersson HC, Marble M, Shapira E (1999) Long--term outcome in treated combined methylmalonic acidemia and homocystinemia. Genet Med. 1:146–150
3. Bartholomew DW, Batshaw ML, Allen RH et al (1988) Therapeutic approaches to cobalamin--C methylmalonic acidemia and homocystinuria. J Pediatr 112:32–39
4. Enns GM, Barkovich AJ, Rosenblatt DS et al (1999) Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. J Inherit Metab Dis 22:599–607
5. Fearing MK, Levy HL (2003) Expanded newborn screening using tandem mass spectrometry. Adv Pediatr 50:81–111
Cited by 53 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect;Journal of Inherited Metabolic Disease;2024-08-17
2. The Redox-Catalytic Properties of Cobalamins;Molecular Biology;2023-12
3. Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?;Molecular Genetics and Metabolism;2023-11
4. Redox-Catalytic Properties of Cobalamins;Молекулярная биология;2023-11-01
5. Vitamin B12 in Foods, Food Supplements, and Medicines—A Review of Its Role and Properties with a Focus on Its Stability;Molecules;2022-12-28
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3