Generalized epimerase deficiency galactosemia

Author:

Sarkar Mihir,Bose Some Suvra,Mondal Gobinda,Chatterjee Sukanta

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference8 articles.

1. Gitzelmann R. Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Helv Pediat Acta 1972; 27: 125–130.

2. Holton JB, Walter JH, Tyfield LA. Galactosaemia. In Scriver CR, Beaudet AL, Sly SW, Valle D, Childs B, Kinzler KW. Vogelstein B, eds. Metabolic and molecular bases of inherited disease, New York; McGraw-Hill, 2000; 1553–1587.

3. Holton JB, Gillett MG, MacFaul R, Young R. Galactosemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 1981; 56: 885–887.

4. Timson DJ. Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. FEBS J 2005; 272: 6170–6177.

5. Alano A, Almashanu S, Chinsky JM et al. Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J Inher Metab Dis 1998; 21: 341–350:10.1023/A.

Cited by 9 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. Galactose epimerase deficiency: lessons from the GalNet registry;Orphanet Journal of Rare Diseases;2022-09-02

2. Disorders of galactose metabolism;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

3. Status of Newborn Screening and Inborn Errors of Metabolism in India;The Indian Journal of Pediatrics;2018-05-07

4. Galactose Epimerase Deficiency: Expanding the Phenotype;JIMD Reports;2017

5. A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype;Journal of Pediatric Endocrinology and Metabolism;2016-01-01

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