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Genetic and biochemical analysis of human cobalamin mutants in cell culture.

作者信息

Fenton W A, Rosenberg L E

出版信息

Annu Rev Genet. 1978;12:223-48. doi: 10.1146/annurev.ge.12.120178.001255.

DOI:10.1146/annurev.ge.12.120178.001255
PMID:371525
Abstract
摘要

相似文献

1
Genetic and biochemical analysis of human cobalamin mutants in cell culture.
Annu Rev Genet. 1978;12:223-48. doi: 10.1146/annurev.ge.12.120178.001255.
2
[Vitamin-B12-dependent methylmalonic acidemia in twins].[双胞胎中的维生素B12依赖性甲基丙二酸血症]
Monatsschr Kinderheilkd. 1983 May;131(5):289-92.
3
[A case of cobalamin-dependent methylmalonic acidemia. Biochemical aspects, diagnosis and possible treatment (author's transl)].[一例钴胺素依赖型甲基丙二酸血症。生化方面、诊断及可能的治疗（作者译）]
Monatsschr Kinderheilkd (1902). 1978 Apr;126(4):179-83.
4
Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.青少年期钴胺素C突变（甲基丙二酸尿症和高胱氨酸尿症）。痴呆和脊髓病的一个可治疗病因。
N Engl J Med. 1984 Aug 16;311(7):451-4. doi: 10.1056/NEJM198408163110707.
5
[Blood methylmalonic acid. Clinical findings in 2 sisters].
Minerva Pediatr. 1984 Sep 15;36(17):845-52.
6
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.
7
Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.两例甲基丙二酸血症患者完整成纤维细胞的生化分析
J Inherit Metab Dis. 1985;8(3):151-2. doi: 10.1007/BF01819303.
8
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.维生素B12反应性甲基丙二酸血症患者的产前治疗
N Engl J Med. 1975 Aug 14;293(7):313-7. doi: 10.1056/NEJM197508142930701.
9
Nursing care study: methylmalonic acidaemia.
Nurs Times. 1978 Apr 20;74(16):665-6.
10
The natural history of the inherited methylmalonic acidemias.遗传性甲基丙二酸血症的自然病史。
N Engl J Med. 1983 Apr 14;308(15):857-61. doi: 10.1056/NEJM198304143081501.

引用本文的文献

1
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.预测孤立性甲基丙二酸血症疾病进展和治疗反应的生物标志物。
J Inherit Metab Dis. 2023 Jul;46(4):554-572. doi: 10.1002/jimd.12636. Epub 2023 Jun 6.
2
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.基于原核基因排列分析鉴定维生素B12反应性甲基丙二酸血症cblA互补组相关基因
Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15554-9. doi: 10.1073/pnas.242614799. Epub 2002 Nov 15.
3
Hyperhomocysteinaemia; with reference to its neuroradiological aspects.
高同型半胱氨酸血症；论其神经放射学方面
Neuroradiology. 1995 Jul;37(5):403-11. doi: 10.1007/BF00588024.
4
Congenital disorders of vitamin B12 transport and their contributions to concepts. II.维生素B12转运的先天性疾病及其概念贡献。II.
Yale J Biol Med. 1981 Nov-Dec;54(6):485-95.
5
An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.气相色谱-质谱联用技术与遗传性有机酸血症简介
Am J Hum Genet. 1980 Nov;32(6):781-92.
6
Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.由于变位酶脱辅基酶缺陷导致的甲基丙二酸血症：在完整的成纤维细胞中对维生素B12有反应，但在体内无反应。
J Inherit Metab Dis. 1982;5(3):137-41. doi: 10.1007/BF01800166.
7
Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.对遗传性甲基丙二酸血症患者培养的成纤维细胞的免疫化学研究。
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7737-41. doi: 10.1073/pnas.78.12.7737.
8
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.
9
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.
10
Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1.正常细胞和突变细胞中钴胺素结合的遗传控制：5-甲基四氢叶酸：L-高半胱氨酸S-甲基转移酶基因定位于人类1号染色体
Proc Natl Acad Sci U S A. 1979 Jan;76(1):405-9. doi: 10.1073/pnas.76.1.405.