卟啉症研究。VIII. 类固醇激素的5α-还原代谢与急性间歇性卟啉症遗传缺陷临床表型的关系。 - Suppr

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超能文献

Studies in porphyria. VIII. Relationship of the 5 alpha-reductive metabolism of steroid hormones to clinical expression of the genetic defect in acute intermittent porphyria.

作者信息

Anderson K E, Bradlow H L, Sassa S, Kappas A

出版信息

Am J Med. 1979 Apr;66(4):644-50. doi: 10.1016/0002-9343(79)91176-8.

DOI:10.1016/0002-9343(79)91176-8

PMID:433969

Abstract

摘要

相似文献

Studies in porphyria. VIII. Relationship of the 5 alpha-reductive metabolism of steroid hormones to clinical expression of the genetic defect in acute intermittent porphyria.卟啉症研究。VIII. 类固醇激素的5α-还原代谢与急性间歇性卟啉症遗传缺陷临床表型的关系。

Am J Med. 1979 Apr;66(4):644-50. doi: 10.1016/0002-9343(79)91176-8.

Endocrine-gene interaction in the pathogenesis of acute intermittent porphyria.急性间歇性卟啉病发病机制中的内分泌-基因相互作用。

Res Publ Assoc Res Nerv Ment Dis. 1974;53:225-37.

Induction of a deficiency of steroid delta 4-5 alpha-reductase activity in liver by a porphyrinogenic drug.一种致卟啉症药物对肝脏中类固醇△4-5α-还原酶活性缺乏的诱导作用。

J Clin Invest. 1977 Jan;59(1):159-64. doi: 10.1172/JCI108614.

Studies in porphyria. II. Evidence for a deficiency of steroid delta-4-5-alpha-reductase activity in acute intermittent porphyria.卟啉症的研究。II. 急性间歇性卟啉症中类固醇Δ4-5-α-还原酶活性缺乏的证据。

J Exp Med. 1973 Oct 1;138(4):754-63. doi: 10.1084/jem.138.4.754.

[Acute intermittent porphyria at 4 months of age].[4个月大时的急性间歇性卟啉病]

Arch Fr Pediatr. 1976 Dec;33(10):987-92.

Studies in porphyria. I. A defect in the reductive transformation of natural steroid hormones in the hereditary liver disease, acute intermittent porphyria.卟啉症研究。I. 遗传性肝脏疾病——急性间歇性卟啉症中天然甾体激素还原转化的缺陷。

J Exp Med. 1972 Nov 1;136(5):1043-53. doi: 10.1084/jem.136.5.1043.

[The enzymopathic nature of porphyria].[卟啉症的酶病本质]

Nouv Presse Med. 1976 May 29;5(22):1417-22.

A defect of steroid hormone metabolism in acute intermittent porphyria.急性间歇性卟啉病中类固醇激素代谢的缺陷。

Fed Proc. 1972 Jul-Aug;31(4):1293-7.

A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease.急性间歇性卟啉病三种异常酶活性之一的尿卟啉原I合酶的微量测定法及其在该疾病遗传学研究中的应用。

Proc Natl Acad Sci U S A. 1974 Mar;71(3):732-6. doi: 10.1073/pnas.71.3.732.

Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.急性间歇性卟啉病中胆色素原脱氨酶缺乏的特征。遗传缺陷异质性的免疫学证据。

J Clin Invest. 1981 Jul;68(1):1-12. doi: 10.1172/jci110223.

引用本文的文献

Acute hepatic porphyria and anaesthesia: a practical approach to the prevention and management of acute neurovisceral attacks.急性肝卟啉病与麻醉：预防和管理急性神经内脏发作的实用方法

BJA Educ. 2021 Feb;21(2):66-74. doi: 10.1016/j.bjae.2020.09.005. Epub 2020 Dec 9.

Recent advances in the epidemiology and genetics of acute intermittent porphyria.急性间歇性卟啉症的流行病学和遗传学研究的最新进展

Intractable Rare Dis Res. 2020 Nov;9(4):196-204. doi: 10.5582/irdr.2020.03082.

Porphyria: What Is It and Who Should Be Evaluated?卟啉病：它是什么以及谁需要接受评估？

Rambam Maimonides Med J. 2018 Apr 19;9(2):e0013. doi: 10.5041/RMMJ.10333.

Gene-environmental interactions: Lessons from porphyria.基因-环境相互作用：卟啉症的启示。

Environ Health Prev Med. 2003 Jan;7(6):254-63. doi: 10.1007/BF02908884.

Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone.遗传性酪氨酸血症与血红素生物合成途径。琥珀酰丙酮对δ-氨基乙酰丙酸脱水酶活性的深度抑制。

J Clin Invest. 1983 Mar;71(3):625-34. doi: 10.1172/jci110809.

Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.卟啉症研究：红细胞生成性原卟啉症患者经丝裂原刺激的淋巴细胞中铁螯合酶活性部分缺乏的功能证据。

J Clin Invest. 1982 Apr;69(4):809-15. doi: 10.1172/jci110520.

Nutrition-endocrine interactions: induction of reciprocal changes in the delta 4-5 alpha-reduction of testosterone and the cytochrome P-450-dependent oxidation of estradiol by dietary macronutrients in man.

Proc Natl Acad Sci U S A. 1983 Dec;80(24):7646-9. doi: 10.1073/pnas.80.24.7646.

Demonstration of a class of porphyrin-containing cells in the pars intermedia of the rat hypophysis.大鼠垂体中间部一类含卟啉细胞的显示

Cell Tissue Res. 1983;232(2):257-64. doi: 10.1007/BF00213785.

The effect of fluroxene [(2,2,2-trifluoroethoxy)ethane] on haem biosynthesis and degradation.氟烷（[2,2,2-三氟乙氧基]乙烷）对血红素生物合成及降解的影响。

Biochem J. 1980 Sep 15;190(3):571-80. doi: 10.1042/bj1900571.

Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication.遗传性尿卟啉原脱羧酶缺乏症使女性在口服避孕药后易患迟发性皮肤卟啉症（慢性肝性卟啉症）。

Arch Dermatol Res. 1985;278(1):13-6. doi: 10.1007/BF00412489.

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