Organic aciduria in neonatal multiple carboxylase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799754
Reference26 articles.
1. Bartlett, K. and Gompertz, D. Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts.Lancet 2 (1976) 804
2. Bartlett, K. and Gompertz, D. Biotin activation of carboxylase activity in cultured fibroblasts from a child with a combined carboxylase defect.Clin. Chim. Acta 84 (1978) 399–401
3. Bartlett, K., Ng, H. and Leonard, J. V. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonylglycinuria and 3-hydroxyisovaleric acidemia.Clin. Chim. Acta 100 (1980) 183–186
4. Chalmers, R. A., Lawson, A. M. and Watts, R. E. W. Studies on the urinary acidic metabolites excreted by patients with β-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry.Clin. Chim. Acta. 52 (1974) 43–51
5. Chalmers, R. A. and Spellacy, E. Biotin-responsive 3-methylcrotonylglycinuria with normal carboxylase activitiesin vitro: demonstration of a metabolic defect in the metabolism of isovalerate with a new assay.Clin. Sci. 58 (1980) 18–19p
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. Disorders of Biotin Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022
2. Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency;JIMD Reports;2016
3. Biotin Disorders;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2013-01-28
4. Quantification of acylglycines in human urine by HPLC electrospray ionization-tandem mass spectrometry and the establishment of pediatric reference interval in local Chinese;Talanta;2012-01
5. Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients;Journal of Inherited Metabolic Disease;2011-12-22
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