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Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease).

作者信息

Nordmann Y, Amram D, Deybach J C, Phung L N, Lesbros D

机构信息

Department of Biochemistry, Hospital Louis Mourier, Faculty of Medicine X. Bichat, University Paris 7, Colombes, France.

出版信息

J Inherit Metab Dis. 1990;13(5):687-91. doi: 10.1007/BF01799568.

DOI:10.1007/BF01799568
PMID:2246853
Abstract

We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease). Enzyme studies confirmed this new type of dual porphyria.

摘要

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1
Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease).
J Inherit Metab Dis. 1990;13(5):687-91. doi: 10.1007/BF01799568.
2
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[Clinical heterogeneity of hereditary coproporphyria: diagnostic usefulness of biochemical studies. Study of a familial case].
Pathologica. 1983;75 Suppl:134-7.
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本文引用的文献

1
Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk.对有风险胎儿进行先天性红细胞生成性卟啉病（冈瑟病）的产前排除。
Hum Genet. 1980 Feb;53(2):217-21. doi: 10.1007/BF00273499.
2
Coproporphyrinogen III oxidase assay.粪卟啉原III氧化酶测定
Enzyme. 1982;28(2-3):196-205. doi: 10.1159/000459102.
3
Coexistent variegate porphyria and porphyria cutanea tarda.
N Engl J Med. 1982 Jul 1;307(1):36-41. doi: 10.1056/NEJM198207013070107.
Hum Genet. 1996 May;97(5):557-60. doi: 10.1007/BF02281859.
4
Harderoporphyria: a variant hereditary coproporphyria.重型血卟啉病：一种变异型遗传性粪卟啉病。
J Clin Invest. 1983 Sep;72(3):1139-49. doi: 10.1172/JCI111039.
5
Separation of porphyrin isomers by high-performance liquid chromatography.通过高效液相色谱法分离卟啉异构体。
Biochem J. 1983 May 1;211(2):435-8. doi: 10.1042/bj2110435.
6
Harderoporphyrin coproporphyria.硬卟啉原粪卟啉病
Lancet. 1984 Feb 4;1(8371):292. doi: 10.1016/s0140-6736(84)90169-7.
7
Enzymatic properties of uroporphyrinogen 3 cosynthetase.尿卟啉原3同合成酶的酶学性质
Biochemistry. 1971 Dec 7;10(25):4669-75. doi: 10.1021/bi00801a012.
8
Chester porphyria: biochemical studies of a new form of acute porphyria.切斯特卟啉症：一种新型急性卟啉症的生化研究
Lancet. 1985 Oct 12;2(8459):796-9. doi: 10.1016/s0140-6736(85)90793-7.
9
New form of dual porphyria: coexistent acute intermittent porphyria and porphyria cutanea tarda.双卟啉症的新形式：急性间歇性卟啉症与迟发性皮肤卟啉症并存。
Eur J Clin Invest. 1989 Feb;19(1):20-5. doi: 10.1111/j.1365-2362.1989.tb00190.x.
10
Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.同胞中的混合型卟啉病和迟发性皮肤卟啉病：化学和遗传学方面
Proc Natl Acad Sci U S A. 1975 Dec;72(12):5126-9. doi: 10.1073/pnas.72.12.5126.