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The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts.

作者信息

Fenton W A, Rosenberg L E

出版信息

Biochem Biophys Res Commun. 1981 Jan 15;98(1):283-9. doi: 10.1016/0006-291x(81)91900-8.

DOI:10.1016/0006-291x(81)91900-8
PMID:7213387
Abstract
摘要

相似文献

1
The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts.人类甲基丙二酸血症cbl B型的缺陷:培养的成纤维细胞提取物中钴胺素(I)腺苷转移酶活性缺乏。
Biochem Biophys Res Commun. 1981 Jan 15;98(1):283-9. doi: 10.1016/0006-291x(81)91900-8.
2
The inherited methylmalonic acidemias.遗传性甲基丙二酸血症
Prog Clin Biol Res. 1982;103 Pt B:187-209.
3
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.
4
Genetic defects of cobalamin metabolism.钴胺素代谢的遗传缺陷。
Ann Clin Lab Sci. 1980 Jul-Aug;10(4):356-60.
5
Metabolic stroke in methylmalonic acidemia.甲基丙二酸血症中的代谢性中风。
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6
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.维生素B12依赖型甲基丙二酸尿症cblB互补类患者的突变及生化分析
Mol Genet Metab. 2006 Mar;87(3):219-25. doi: 10.1016/j.ymgme.2005.11.011. Epub 2006 Jan 10.
7
Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin.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。II. 与腺苷钴胺素的体外结合动力学
Biochem Med. 1976 Jun;15(3):241-5. doi: 10.1016/0006-2944(76)90054-5.
8
Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.伴有高胱氨酸尿症的甲基丙二酸尿症:一名钴胺素C型患者的生化研究、治疗及临床病程
Eur J Pediatr. 1990 Mar;149(6):412-5. doi: 10.1007/BF02009662.
9
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.cblB突变对维生素B₁₂代谢紊乱中ATP:钴胺素(I)腺苷转移酶功能的影响。
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Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia.代谢性疾病中的底物处置:甲基丙二酸血症患儿体内丙酸氧化速率与尿代谢产物排泄率的比较
J Pediatr. 1989 Nov;115(5 Pt 1):735-9. doi: 10.1016/s0022-3476(89)80651-1.

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Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).钴胺素代谢先天性缺陷的cblA类互补研究:等位基因间互补及新互补类(cblH)的证据
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