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Defective propionate carboxylation in ketotic hyperglycinaemia.

作者信息

Hsia Y E, Scully K J, Rosenberg L E

出版信息

Lancet. 1969 Apr 12;1(7598):757-8. doi: 10.1016/s0140-6736(69)91757-7.

DOI:10.1016/s0140-6736(69)91757-7
PMID:4180220
Abstract
摘要

相似文献

1
Defective propionate carboxylation in ketotic hyperglycinaemia.
Lancet. 1969 Apr 12;1(7598):757-8. doi: 10.1016/s0140-6736(69)91757-7.
2
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.
3
The oxidation of glycine and propionic acid in propionic acidemia with ketotic hyperglycinemia.
Pediatr Res. 1972 Jun;6(6):576-83. doi: 10.1203/00006450-197206000-00006.
4
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.
5
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".β-酮硫解酶缺乏症作为“酮症高甘氨酸血症综合征”的一个病因
Pediatrics. 1974 Feb;53(2):221-5.
6
Acceleration of gluconeogenesis from propionate by Dl-carnitine in the rat kidney cortex.大鼠肾皮质中Dl-肉碱对丙酸盐糖异生的促进作用。
Biochem J. 1969 Jan;111(1):69-81. doi: 10.1042/bj1110069.
7
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia.丙酸血症患者中丙酸主要代谢产物柠檬酸甲酯的分离与鉴定。
J Biol Chem. 1972 Apr 10;247(7):2200-4.
8
Importance of the single case.
N Engl J Med. 1968 Jun 13;278(24):1347. doi: 10.1056/NEJM196806132782413.
9
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.
10
Propionic acid, an artefact which can leave methylmalonic acidemia undiscovered.丙酸,一种可能导致甲基丙二酸血症未被发现的人为产物。
Clin Chim Acta. 1973 Dec 12;49(2):177-9. doi: 10.1016/0009-8981(73)90288-x.

引用本文的文献

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New insights into the pathophysiology of methylmalonic acidemia.浅析甲基丙二酸血症的病理生理学新见解。
J Inherit Metab Dis. 2023 May;46(3):436-449. doi: 10.1002/jimd.12617.
2
Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.异常甲基丙二酸血症的基础是甲基丙二酰化异常,可被工程化的去乙酰化酶减弱。
Sci Transl Med. 2022 May 25;14(646):eabn4772. doi: 10.1126/scitranslmed.abn4772.
3
Cardiac Complications of Propionic and Other Inherited Organic Acidemias.丙酸血症及其他遗传性有机酸血症的心脏并发症
Front Cardiovasc Med. 2020 Dec 22;7:617451. doi: 10.3389/fcvm.2020.617451. eCollection 2020.
4
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.与高血糖酮症酸中毒和糖尿病相关的先天性代谢缺陷:叙述性综述
Sudan J Paediatr. 2018;18(1):10-23. doi: 10.24911/SJP.2018.1.3.
5
Metabolic etiologies in West syndrome.韦斯特综合征的代谢病因
Epilepsia Open. 2018 Mar 14;3(2):134-166. doi: 10.1002/epi4.12102. eCollection 2018 Jun.
6
Isovaleric, methylmalonic, and propionic acid decrease anesthetic EC50 in tadpoles, modulate glycine receptor function, and interact with the lipid 1,2-dipalmitoyl-Sn-glycero-3-phosphocholine.异戊酸、甲基丙二酸和丙酸可降低蝌蚪的麻醉半数有效浓度(EC50),调节甘氨酸受体功能,并与脂质1,2 - 二棕榈酰 - Sn - 甘油 - 3 - 磷酸胆碱相互作用。
Anesth Analg. 2009 May;108(5):1538-45. doi: 10.1213/ane.0b013e31819cd964.
7
Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.迈向甲基丙二酸血症的代谢库疗法:通过逆转录病毒介导的基因转移纠正一名甲基丙二酸血症患儿T淋巴细胞中的甲基丙二酰辅酶A变位酶缺陷。
J Inherit Metab Dis. 1999 Oct;22(7):773-87. doi: 10.1023/a:1005593605399.
8
Clinical outcome and long-term management of 17 patients with propionic acidaemia.17例丙酸血症患者的临床结局及长期管理
Eur J Pediatr. 1996 Mar;155(3):205-10. doi: 10.1007/BF01953939.
9
Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism.对于患有丙酸代谢紊乱的患者,给予甲硝唑治疗不会影响丙酰肉碱的排泄。
Eur J Pediatr. 1996 Jan;155(1):31-5. doi: 10.1007/BF02115623.
10
Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.孤立性丙酰辅酶A羧化酶缺乏症中交叉反应物质的缺失:残余羧化活性的性质
Am J Hum Genet. 1983 May;35(3):409-20.