Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-012-9466-1
Reference22 articles.
1. Calabrese E, Sacco C, Moore G, DiNardi S (1981) Sulfite oxidase deficiency: a high risk factor in SO2, sulfite, and bisulfite toxicity? Med Hypotheses 7:133–145
2. Chang YE (1978) Lysine metabolism in the rat brain: the pipecolic acid-forming pathway. J Neurochem 30:347–354
3. Ciaccio EI (1966) The inhibition of lactate dehydrogenase by 3-acetylpyridine adenine dinucleotide and bisulfite. J Biol Chem 241:1581–1586
4. Dodt G, Kim DG, Reimann SA, Reuber BE, McCabe K, Gould SJ, Mihalik SJ (2000) L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases. Biochem J 345:487–494
5. Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT (2011) Pyridoxal 5′-phosphate in cerebrospinal fluid; factors affecting concentration. J Inherit Metab Dis 34:529–538
Cited by 46 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. Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns;Frontiers in Genetics;2024-09-12
2. Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency;Journal of Inherited Metabolic Disease;2024-07-22
3. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies;Journal of Inherited Metabolic Disease;2024-04-16
4. On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies;Journal of Inherited Metabolic Disease;2023-07-27
5. Sulfite Impairs Bioenergetics and Redox Status in Neonatal Rat Brain: Insights into the Early Neuropathophysiology of Isolated Sulfite Oxidase and Molybdenum Cofactor Deficiencies;Cellular and Molecular Neurobiology;2023-03-02
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