Novel mutations in patients with fructose-1,6-bisphosphatase deficiency-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel mutations in patients with fructose-1,6-bisphosphatase deficiency

Published:1999-04 Issue:2 Volume:22 Page:132-138
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Herzog B.¹,Wendel U.²,Morris A. A. M.³,Eschrich K.¹

Affiliation:

1. ; Institute of Biochemistry; University of Leipzig, School of Medicine; Leipzig Germany

2. ; Zentrum für Kinderheilkunde; Heinrich Heine Universität Düsseldorf; Düsseldorf Germany

3. ; Department of Child Health, The Medical School; University of Newcastle upon Tyne; Newcastle upon Tyne UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005489617843/fullpdf

Reference19 articles.

1. Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity;Baker;Lancet,1970

2. Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity;Besley;J Inher Metab Dis,1994

3. Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency;Bührdel;Eur J Pediatr,1990

4. Intercurrent illness in inborn errors of intermediary metabolism;Dixon;Arch Dis Child,1992

Cited by 32 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. Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene;Molecular Genetics and Metabolism Reports;2024-12

2. Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association;Frontiers in Genetics;2024-07-05

3. Identification of genotype–biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency;Communications Biology;2023-07-28

4. Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association;2023-01-17

5. Characterization based on genotype–biochemical phenotype association in fructose-1,6-bisphosphatase deficiency;2022-11-02

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