Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

Published:1989-10 Issue:5 Volume:19 Page:415-418
ISSN:0014-2972
Container-title:European Journal of Clinical Investigation
language:en
Short-container-title:Eur J Clin Invest

Author:

GRANDCHAMP B.,PICAT C.,KAUPPINEN R.,MIGNOTTE V.,PELTONEN L.,MUSTAJOKI P.,ROMÉO P. H.,GOOSSENS M.,NORDMANN Y.

Publisher

Wiley

Subject

Clinical Biochemistry,Biochemistry,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2362.1989.tb00252.x/fullpdf

Reference17 articles.

1. Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

2. Normal Erythrocyte Uroporphyrinogen I Synthase in a Kindred with Acute Intermittent Porphyria

3. Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen-I-synthase activity

Cited by 59 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. From chemistry to genomics: A concise history of the porphyrias;Liver International;2024-05-20

2. Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China;Annals of Translational Medicine;2022-05

3. Recurrence of mild neuropathic pain, following deceased donor liver transplantation, in patient with acute intermittent porphyria: Could timing explain it? A case report;Journal of Liver Transplantation;2021-10

4. Recent advances in the epidemiology and genetics of acute intermittent porphyria;Intractable & Rare Diseases Research;2020-10-31

5. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes;Molecular Genetics and Metabolism;2019-11

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