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Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia.

作者信息

Kobayashi M, Ichiki T, Sugiyama N, Sano T, Ban K, Tsuboi T, Inagaki H, Okajima K, Sobajima H, Suzuki S

机构信息

Department of Pediatrics, Nagoya City University Medical School, Japan.

出版信息

J Inherit Metab Dis. 1992;15(5):809-14. doi: 10.1007/BF01800026.

DOI:10.1007/BF01800026
PMID:1434522
Abstract
摘要

相似文献

1
Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia.
J Inherit Metab Dis. 1992;15(5):809-14. doi: 10.1007/BF01800026.
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本文引用的文献

1
Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency.一例肌肉肉碱棕榈酰转移酶缺乏症患者对中链甘油三酯和长链甘油三酯的不同生酮反应。
J Inherit Metab Dis. 1982;5(4):233-4. doi: 10.1007/BF02179151.
2
Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.一名先天性乳酸性酸中毒婴儿线粒体还原型烟酰胺腺嘌呤二核苷酸 - 泛醌氧化还原酶（复合体I）铁硫簇缺乏。
J Clin Invest. 1984 Sep;74(3):685-97. doi: 10.1172/JCI111484.
3
Deficiency of subunits of Complex I and mitochondrial encephalomyopathy.
复合体I亚基缺乏与线粒体脑肌病
Ann Neurol. 1988 Mar;23(3):287-94. doi: 10.1002/ana.410230312.
4
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.一名丙酮酸脱氢酶缺乏症患者出现高氨血症和乳酸性酸中毒。
J Inherit Metab Dis. 1987;10(4):359-66. doi: 10.1007/BF01799978.
5
Abnormality of citrulline synthesis in liver mitochondria from patients with hyperornithinaemia, hyperammonaemia and homocitrullinuria.
J Inherit Metab Dis. 1987;10(3):277-80. doi: 10.1007/BF01800081.
6
Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.三名乳酸血症患者培养的皮肤成纤维细胞线粒体中的呼吸链缺陷
J Clin Invest. 1986 May;77(5):1422-7. doi: 10.1172/JCI112453.
7
Detection of pyruvate metabolism disorders by culture of skin fibroblasts with dichloroacetate.用二氯乙酸培养皮肤成纤维细胞检测丙酮酸代谢紊乱
Pediatr Res. 1988 Jun;23(6):561-4. doi: 10.1203/00006450-198806000-00005.
8
A newborn infant with respiratory distress and persistent stridulous breathing.一名患有呼吸窘迫和持续性喘鸣呼吸的新生儿。
J Pediatr. 1988 Jul;113(1 Pt 1):150-5. doi: 10.1016/s0022-3476(88)80550-x.
9
Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain.伴有呼吸链复合体III缺陷的婴儿期致命性乳酸性酸中毒
Pediatr Res. 1989 May;25(5):553-9. doi: 10.1203/00006450-198905000-00025.
10
Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain.
J Inherit Metab Dis. 1991;14(3):289-92. doi: 10.1007/BF01811684.