How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

Published:2004-03 Issue:2 Volume:27 Page:179-186
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Grünewald S.¹²,Fairbanks L.³,Genet S.⁴,Cranston T.⁴,Hüsing J.⁵,Leonard J. V.¹,Champion M. P.⁶

Affiliation:

1. ; Institute of Child Health; London UK

2. Department of Paediatrics; Children's University Hospital; Essen Germany

3. ; Purine Research Laboratory; Guy's Hospital; London

4. ; Department of Clinical Molecular Genetics; Great Ormond Street Hospital; London UK

5. ; Institute for Medical Informatics, Biometry and Epidemiology; University Essen; Germany

6. ; Department of Paediatric Metabolic Medicine; Guy's Hospital; London UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000028727.77454.bd/fullpdf

Reference33 articles.

1. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma;Arn;N Engl J Med,1990

2. Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency;Arranz;Clin Chem,1999

3. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family;Ausems;Am J Med Genet,1997

4. Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency;Barshop;J Inherit Metab Dis,2001

5. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency;Batshaw;J Pediatr,1986

Cited by 25 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. Two pregnancies of an ornithine carbamoyltransferase deficiency disease carrier and review of the literature;Nutrición Hospitalaria;2024

2. The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem;JIMD Reports;2023-01-29

3. A simple screening method for heterozygous female patients with ornithine transcarbamylase deficiency;Molecular Genetics and Metabolism;2022-11

4. Disorders of the Urea Cycle and Related Enzymes;Inborn Metabolic Diseases;2022

5. Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency;Journal of Inherited Metabolic Disease;2020-12-30

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