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The use of chorionic villi in prenatal diagnosis of mitochondriopathies.

作者信息

Ruitenbeek W, Sengers R C, Trijbels J M, Janssen A J, Bakkeren J A

机构信息

Department of Pediatrics, University Hospital of Nijmegen, The Netherlands.

出版信息

J Inherit Metab Dis. 1992;15(3):303-6. doi: 10.1007/BF02435962.

DOI:10.1007/BF02435962
PMID:1328761
Abstract
摘要

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1
The use of chorionic villi in prenatal diagnosis of mitochondriopathies.绒毛膜绒毛在线粒体病产前诊断中的应用。
J Inherit Metab Dis. 1992;15(3):303-6. doi: 10.1007/BF02435962.
2
[Abnormality in the mitochondrial energy-producing system].[线粒体能量产生系统异常]
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Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV.
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5
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6
[Pure mitochondrial myopathy].
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7
Biochemical and molecular aspects of human mitochondrial respiratory chain disorders.人类线粒体呼吸链疾病的生化与分子层面
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引用本文的文献

1
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.绒毛膜绒毛中呼吸链缺陷产前诊断的先决条件和策略。
J Inherit Metab Dis. 2003;26(7):647-58. doi: 10.1023/b:boli.0000005605.57420.b4.
2
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.
J Inherit Metab Dis. 1996;19(4):581-7. doi: 10.1007/BF01799118.
3
Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies.线粒体(脑)肌病的生化诊断问题

本文引用的文献

1
A microspectrophotometric method for the determination of cytochrome oxidase.一种测定细胞色素氧化酶的显微分光光度法。
J Biol Chem. 1951 Apr;189(2):665-70.
2
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.一种线粒体脑肌病:首例辅酶Q水平存在明确缺陷的病例。
Eur J Pediatr. 1986 Feb;144(5):441-4. doi: 10.1007/BF00441735.
3
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.Leigh综合征,一种线粒体脑(肌)病。文献综述。
Eur J Pediatr. 1993 Mar;152(3):178-84. doi: 10.1007/BF01956139.
Clin Neurol Neurosurg. 1987;89(4):217-30. doi: 10.1016/s0303-8467(87)80020-3.
4
Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi.通过绒毛取样活检对细胞色素c氧化酶缺乏症进行产前诊断。
N Engl J Med. 1988 Oct 20;319(16):1095. doi: 10.1056/NEJM198810203191616.
5
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.一名患有乳酸性酸中毒和意外猝死患者的丙酮酸脱氢酶α和β亚基缺乏症
Eur J Pediatr. 1990 Apr;149(7):487-92. doi: 10.1007/BF01959401.
6
Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies.线粒体肌病中酶缺陷的异质性组织表达。
J Inherit Metab Dis. 1990;13(3):359-62. doi: 10.1007/BF01799395.
7
First trimester diagnosis of inherited metabolic disease: experience in the UK.孕早期遗传性代谢疾病的诊断:英国的经验
J Inherit Metab Dis. 1991;14(2):128-33. doi: 10.1007/BF01800583.