Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2013_235
Reference49 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. Bermúndez M, Frank N, Bernal J, Urreizti R, Briceño I, Begoña M, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP (2006) High prevalence of CBS p.T191M mutation in homocystinuric patients from Columbia. Hum Mutat 27:296–302
3. Capdevila A, Wagner C (1998) Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles. Anal Biochem 264:180–184
4. Chauveheid M-P, Lidove O, Papo T, Laissy J-P (2008) Adult-inset homocystinuria arteriography mimics fibromuscular dysplasia. Am J Med 121:e5–e6
5. Cochran FB, Sweetman L, Schmidt K, Barsh G, Kraus J, Packman S (1990) Pyridoxine-unresponsive homocystinuria with an unusual clinical course. Am J Med Genet 35:519–522
Cited by 26 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. Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature;Children;2023-02-17
2. Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?;Frontiers in Pharmacology;2022-09-29
3. Disorders of Sulfur Amino Acid Metabolism;Inborn Metabolic Diseases;2022
4. Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience;International Journal of Neonatal Screening;2021-08-17
5. Analysis of differential neonatal lethality in cystathionine β‐synthase deficient mouse models using metabolic profiling;The FASEB Journal;2021-05-04
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