甲基丙二酰辅酶A消旋酶缺陷：甲基丙二酸尿症的另一个病因。 - Suppr

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超能文献

Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.

作者信息

Kang E S, Snodgrass P J, Gerald P S

出版信息

Pediatr Res. 1972 Dec;6(12):875-9. doi: 10.1203/00006450-197212000-00004.

DOI:10.1203/00006450-197212000-00004

PMID:4643536

Abstract

摘要

相似文献

Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.甲基丙二酰辅酶A消旋酶缺陷：甲基丙二酸尿症的另一个病因。

Pediatr Res. 1972 Dec;6(12):875-9. doi: 10.1203/00006450-197212000-00004.

In vitro "responsive" methylmalonic acidemia: a new variant.体外“反应性”甲基丙二酸血症：一种新的变异型。

J Pediatr. 1974 Jul;85(1):55-9. doi: 10.1016/s0022-3476(74)80285-4.

Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.甲基丙二酸尿症：代谢阻断定位与维生素B12依赖性

Science. 1968 Nov 15;162(3855):805-7. doi: 10.1126/science.162.3855.805.

Methylmalonic acid.甲基丙二酸

Pediatrics. 1973 Jun;51(6):1012-5.

Studies of methylmalonyl coenzyme A carbonylmutase activity in methylmalonic acidemia. I. Correlation of clinical, hepatic, and fibroblast data.甲基丙二酸血症中甲基丙二酰辅酶A羧基变位酶活性的研究。I. 临床、肝脏和成纤维细胞数据的相关性

Pediatr Res. 1975 Aug;9(8):641-4. doi: 10.1203/00006450-197508000-00006.

Studies on cultured fibroblasts in a case of methylmalonic aciduria.甲基丙二酸尿症一例中培养成纤维细胞的研究。

S Afr Med J. 1984 Feb 18;65(7):257-60.

Urinary methylmalonate and hepatic methylmalonyl CoA mutase in vitamin B12 deficient rats.维生素B12缺乏大鼠的尿甲基丙二酸和肝脏甲基丙二酰辅酶A变位酶

Nutr Rev. 1971 Jan;29(1):18-20. doi: 10.1111/j.1753-4887.1971.tb07213.x.

Prenatal diagnosis of methylmalonic aciduria.

Pediatrics. 1974 Oct;54(4):511-3.

Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts.维生素B12依赖型甲基丙二酸尿症：培养的成纤维细胞中维生素B12代谢缺陷

Biochem Biophys Res Commun. 1969 Nov 6;37(4):607-14. doi: 10.1016/0006-291x(69)90853-5.

New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria.表现为甲基丙二酸尿症的维生素B12代谢新紊乱（钴胺素F）

Pediatrics. 1986 Jul;78(1):51-4.

引用本文的文献

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.秀丽隐杆线虫中丙酰辅酶A和腺苷钴胺素的代谢：甲基丙二酰辅酶A差向异构酶在中间代谢中作用的证据

Mol Genet Metab. 2006 Sep-Oct;89(1-2):64-73. doi: 10.1016/j.ymgme.2006.06.001. Epub 2006 Jul 14.

Genetic and genomic systems to study methylmalonic acidemia.用于研究甲基丙二酸血症的遗传和基因组系统。

Mol Genet Metab. 2005 Sep-Oct;86(1-2):34-43. doi: 10.1016/j.ymgme.2005.07.020. Epub 2005 Sep 22.

Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.使用十二指肠活检样本检测氨甲酰磷酸合成酶1缺乏症。

Arch Dis Child. 1980 Apr;55(4):292-5. doi: 10.1136/adc.55.4.292.

Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man?大鼠体内甲基丙二酸的代谢。甲基丙二酰辅酶A消旋酶缺乏在人类中是否有症状表现？

J Clin Invest. 1983 Dec;72(6):1937-47. doi: 10.1172/JCI111158.

Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression.人类成纤维细胞中遗传性甲基丙二酸单酰辅酶A变位酶脱辅基酶缺乏症：等位基因异质性、遗传复合性和共显性表达的证据。

J Clin Invest. 1980 Mar;65(3):690-8. doi: 10.1172/JCI109715.

Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.甲基丙二酸血症：5'-脱氧腺苷钴胺素合成缺陷中的生化异质性

Proc Natl Acad Sci U S A. 1975 Jul;72(7):2799-803. doi: 10.1073/pnas.72.7.2799.

Methylmalonic acidemia controlled with oral administration of vitamin B12.通过口服维生素B12控制的甲基丙二酸血症。

Can Med Assoc J. 1976 Aug 7;115(3):233-6.

[Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].[甲基丙二酸尿症。分类、诊断与治疗（作者译）]

Klin Wochenschr. 1977 Jan 15;55(2):57-63. doi: 10.1007/BF01469083.

Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.甲基丙二酸血症和非酮症高甘氨酸血症。临床与生化方面。

Arch Dis Child. 1975 Feb;50(2):103-9. doi: 10.1136/adc.50.2.103.

Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.甲基丙二酸血症：对维生素B12治疗无反应的两种变异型的6年临床经验。

Can Med Assoc J. 1979 May 19;120(10):1230-5.

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