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Pyruvate carboxylase deficiency: an alleged biochemical cause of Leigh's disease.

作者信息

Murphy J V, Isohashi F, Weinberg M B, Utter M F

出版信息

Pediatrics. 1981 Sep;68(3):401-4.

PMID:6792586
Abstract
摘要

相似文献

1
Pyruvate carboxylase deficiency: an alleged biochemical cause of Leigh's disease.丙酮酸羧化酶缺乏症:一种被认为是 Leigh 病的生化病因。
Pediatrics. 1981 Sep;68(3):401-4.
2
[Clinical and neurophysiological aspects of Leigh's subacute necrotizing encephalomyelopathy (author's transl)].
Riv Patol Nerv Ment. 1974 Oct;95(5):531-4.
3
[Enzymopathic congenital hyperlactacidemia].酶病性先天性高乳酸血症
Ann Biol Clin (Paris). 1976;34(2):151-9.
4
Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency.伴有丙酮酸羧化酶缺乏的 Leigh 坏死性脑病
Arch Pathol Lab Med. 1983 Apr;107(4):162-6.
5
[Subacute necrotizing encephalomyelopathy (Leigh's disease)].
Srp Arh Celok Lek. 1973 Nov;101(11):875-83.
6
Subacute necrotizing encephalomyelopathy (Leigh's disease).
Pediatrics. 1977 Dec;60(6):935-7.
7
[A case of Leigh's disease].
Acta Neurol (Napoli). 1973 Jul-Aug;28(4):376-82.
8
Infantile subacute necrotizing encephalomyelopathy (Leigh's disease).
Mo Med. 1972 May;69(5):Suppl:37-9.
9
Normal activities of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Leigh's syndrome.Leigh综合征中肝丙酮酸脱氢酶和丙酮酸羧化酶的正常活性
Tohoku J Exp Med. 1983 Jan;139(1):67-72. doi: 10.1620/tjem.139.67.
10
[The adult form of Leigh's necrotizing encephalopathy with chronic evolution. Its comparison with the infantile and juvenile forms].
Acta Neurol Belg. 1971 May-Jun;71(3):282-95.

引用本文的文献

1
Transcarboxylase 5S structures: assembly and catalytic mechanism of a multienzyme complex subunit.转羧酶的5S结构:多酶复合体亚基的组装与催化机制
EMBO J. 2004 Sep 15;23(18):3621-31. doi: 10.1038/sj.emboj.7600373. Epub 2004 Aug 26.
2
X-linked Leigh's syndrome.X连锁 Leigh 综合征
Hum Genet. 1982;62(1):52-9. doi: 10.1007/BF00295603.
3
Pyruvate carboxylase deficiency.丙酮酸羧化酶缺乏症
J Inherit Metab Dis. 1984;7 Suppl 1:74-8. doi: 10.1007/BF03047379.
4
A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling.1例丙酮酸羧化酶缺乏症病例及对1名未受影响同胞的产前诊断
J Inherit Metab Dis. 1983;6(3):85-8. doi: 10.1007/BF01800730.
5
The biotin-dependent carboxylase deficiencies.生物素依赖性羧化酶缺乏症
Am J Hum Genet. 1982 Sep;34(5):699-716.
6
Mitochondrial myopathies.线粒体肌病
J Inherit Metab Dis. 1987;10 Suppl 1:113-28. doi: 10.1007/BF01812852.