在一个推测存在4-羟基苯丙酮酸双加氧酶缺陷的家族中，除了hawkinsin外，顺式和反式4-羟基环己基乙酸的排泄情况 - Suppr

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超能文献

Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase.

作者信息

Niederwieser A, Wadman S K, Danks D M

出版信息

Clin Chim Acta. 1978 Dec 1;90(2):195-200. doi: 10.1016/0009-8981(78)90522-3.

DOI:10.1016/0009-8981(78)90522-3

PMID:719903

Abstract

摘要

相似文献

Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase.在一个推测存在4-羟基苯丙酮酸双加氧酶缺陷的家族中，除了hawkinsin外，顺式和反式4-羟基环己基乙酸的排泄情况

Clin Chim Acta. 1978 Dec 1;90(2):195-200. doi: 10.1016/0009-8981(78)90522-3.

A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother.在一名患有短暂性酪氨酸血症的婴儿及其母亲体内发现了一种名为霍金斯辛的新硫氨基酸。

Clin Chim Acta. 1977 May 2;76(3):345-56. doi: 10.1016/0009-8981(77)90161-9.

New tyrosine metabolites in humans: hawkinsin and cis- and trans-4-hydroxycyclohexylacetic acids. Unusual adsorption of deuterated and non-deuterated hawkinsin during gas chromatography.

J Chromatogr. 1978 Sep 1;146(2):207-12. doi: 10.1016/s0378-4347(00)81886-1.

Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase.霍金斯尿症——酸中毒期喹啉乙酸和焦谷氨酸的鉴定

J Chromatogr. 1983 Jul 8;275(2):237-43. doi: 10.1016/s0378-4347(00)84371-6.

Long-term follow up of a new case of hawkinsinuria.对一例新的霍金斯尿症病例的长期随访。

Eur J Pediatr. 1999 Jul;158(7):578-82. doi: 10.1007/s004310051151.

Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement.

Pediatr Res. 1983 Jan;17(1):25-9. doi: 10.1203/00006450-198301000-00005.

[Hereditary tyrosinemia: examination of the liver by electron microscopy of hepatic biopsies: observation of 7 cases].[遗传性酪氨酸血症：通过肝活检组织电镜检查肝脏：7例观察]

Union Med Can. 1977 Jul;106(7):1014-6.

A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency.一种由于4-羟基苯丙酮酸氧化酶缺乏导致的新型高酪氨酸血症变异型。

J Inherit Metab Dis. 1982;5(4):237-8. doi: 10.1007/BF02179153.

Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy.霍金斯尿症：一种酪氨酸代谢的显性遗传缺陷，在婴儿期有严重影响。

N Engl J Med. 1981 Oct 8;305(15):865-8. doi: 10.1056/NEJM198110083051505.

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.4-羟基苯丙酮酸双加氧酶基因突变是导致III型酪氨酸血症和霍金斯尿症的原因。

Mol Genet Metab. 2000 Nov;71(3):506-10. doi: 10.1006/mgme.2000.3085.

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Nat Prod Rep. 2018 Aug 15;35(8):792-837. doi: 10.1039/c7np00067g.

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.扩展霍金斯尿症的表型：对N-乙酰-L-半胱氨酸反应的新见解。

J Inherit Metab Dis. 2016 Nov;39(6):821-829. doi: 10.1007/s10545-016-9963-8. Epub 2016 Aug 3.

4-hydroxyphenylpyruvate dioxygenase catalysis: identification of catalytic residues and production of a hydroxylated intermediate shared with a structurally unrelated enzyme.4-羟基苯丙酮酸双加氧酶的催化作用：催化残基的鉴定和与结构上不相关的酶共享的羟化中间产物的生成。

J Biol Chem. 2011 Jul 22;286(29):26061-70. doi: 10.1074/jbc.M111.227595. Epub 2011 May 25.

Evaluation of models for the mechanism of action of 4-hydroxyphenylpyruvate dioxygenase.

Experientia. 1981 Nov 15;37(11):1134-7. doi: 10.1007/BF01989880.

Metabolites of the naphthenic hydrocarbon dodecylcyclohexane in rainbow trout liver and their incorporation into lipids.虹鳟鱼肝中环烷烃十二烷基环己烷的代谢产物及其在脂质中的掺入情况。

Arch Environ Contam Toxicol. 1986 Feb;15(2):207-13. doi: 10.1007/BF01059969.

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