The detection of molybdenum cofactor deficiency: Clinical symptomatology and urinary metabolite profile

Author:

van Gennip A. H.,Abeling N. G. G. M.,Stroomer A. E. M.,Overmars H.,Bakker H. D.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference5 articles.

1. Bakker HD, Abeling NGGM, Ten Houten R et al 1993 Molybdenum deficiency can mimic postanoxic encephalopathy.J Inher Metab Dis 16:900?901.

2. Johnson JL, Wadman SK (1989) Molybdenum cofactor deficiency. In Scriver CR, Beaudet AL, Sly WS and Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 1463?1475.

3. Slot HMJ, Overweg-Plandsoen WCG, Bakker HD et al 1993 Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.Neuropediatrics 24:139?142.

4. Van Gennip AH (1987) Screening for inborn errors of purine and pyrimidine metabolism by bidimensional TLC and HPLC. In Krstulovic AM, ed.Handbook of Chromatography, Nucleic Acids and Related Compounds, Boca Raton, FL: CRC Press Inc., 221?245.

5. Van Gennip AH, Stroomer A, Plandsoen WCG, Abeling NGGM (1991) The effect of molybdenum cofactor deficiency on the purine pattern of cerebrospinal fluid.J Inher Metab Dis 14: 364?366.

Cited by 18 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. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies;Journal of Inherited Metabolic Disease;2024-04-16

2. The Urinary Metabolome of Newborns with Perinatal Complications;Metabolites;2024-01-10

3. The Urinary Metabolome of Healthy Newborns;Metabolites;2020-04-23

4. Molybdenum, Mo;Mammals and Birds as Bioindicators of Trace Element Contaminations in Terrestrial Environments;2019

5. Oxidative stress in ageing and disease development studied by FT-IR spectroscopy;Mechanisms of Ageing and Development;2018-06

同舟云学术

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