遗传性粪卟啉原氧化酶缺乏症导致遗传性粪卟啉病。 - Suppr

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Deficiency of hepatic coproporphyrinogen oxidase in hereditary coproporphyria.

作者信息

Hawk J L, Magnus I A, Parkes A, Elder G H, Doyle M

出版信息

J R Soc Med. 1978 Oct;71(10):775-7. doi: 10.1177/014107687807101018.

DOI:10.1177/014107687807101018

PMID:712737

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1436210/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba96/1436210/cda0f581ff42/jrsocmed00292-0104-a.jpg

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引用本文的文献

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

Am J Hum Genet. 2001 May;68(5):1130-8. doi: 10.1086/320118. Epub 2001 Apr 16.

本文引用的文献

STUDIES OF COPROPORPHYRIN. III. IDIOPATHIC COPROPORPHYRINURIA; A HITHERTO UNRECOGNIZED FORM CHARACTERIZED BY LACK OF SYMPTOMS IN SPITE OF THE EXCRETION OF LARGE AMOUNTS OF COPROPORPHYRIN.

J Clin Invest. 1949 May;28(3):465-8. doi: 10.1172/JCI102091.

Hereditary coproporphyria.

Br Med J. 1955 Jul 9;2(4931):85-8. doi: 10.1136/bmj.2.4931.85.

Biochemical defects in two types of human hepatic porphyria.

N Engl J Med. 1970 Oct 29;283(18):954-8. doi: 10.1056/NEJM197010292831803.

Hereditary coproporphyria.

Lancet. 1967 Mar 25;1(7491):632-6. doi: 10.1016/s0140-6736(67)92538-x.

Hepatic delta-aminolaevulinic acid synthetase in an attack of hereditary coproporphyria and during remission.

Lancet. 1971 Mar 20;1(7699):560-4. doi: 10.1016/s0140-6736(71)91161-5.

Hereditary coproporphyria presenting with photosensitivity induced by the contraceptive pill.

Br J Dermatol. 1977 May;96(5):549-54. doi: 10.1111/j.1365-2133.1977.tb07161.x.

Hereditary coproporphyria. Demonstration of the abnormalities in haem biosynthesis in peripheral blood.

Q J Med. 1977 Apr;46(182):229-41.

Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria.

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A radiochemical method for the measurement of coproporphyrinogen oxidase and the utilization of substrates other than coproporphyrinogen III by the enzyme from rat liver.

Biochem J. 1978 Jan 1;169(1):205-14. doi: 10.1042/bj1690205.

The primary enzyme defect in hereditary coproporphyria.

Lancet. 1976 Dec 4;2(7997):1217-9. doi: 10.1016/s0140-6736(76)91143-0.

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