Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India
Author:
Affiliation:
1. National Institute of Immunohaematology; Indian Council of Medical Research; Mumbai India
2. Haematology Department; K.E.M Hospital; Mumbai India
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency;Percy;Br J Haematol,2008
2. Molecular basis of recessive congenital methemoglobinemia, types I and II: exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene;Kugler;Hum Mutat,2001
3. Recessive hereditary methemoglobinemia, type II: delineation of the clinical spectrum;Ewenczyk;Brain,2008
4. Structure of human erythrocytic NADH-cytochrome b5 reductase;Bando;Acta Crystallogr D Biol Crystallogr,2004
5. Basic haematological techniques
Cited by 19 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. Inflammatory phenotype, clinicopathologic variables, and effects of long-term methylene blue in dogs with hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency;American Journal of Veterinary Research;2023-01-19
2. Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach;Molecular Syndromology;2023
3. Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II;Brain Sciences;2022-01-29
4. Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy;International Journal of Pediatrics and Adolescent Medicine;2021-03
5. Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs;Scientific Reports;2020-12
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