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Cytochrome-c-oxidase deficiency in a floppy infant.

作者信息

Heiman-Patterson T D, Bonilla E, DiMauro S, Foreman J, Schotland D L

出版信息

Neurology. 1982 Aug;32(8):898-901. doi: 10.1212/wnl.32.8.898.

DOI:10.1212/wnl.32.8.898
PMID:6285228
Abstract
摘要

相似文献

1
Cytochrome-c-oxidase deficiency in a floppy infant.一名松软婴儿的细胞色素c氧化酶缺乏症
Neurology. 1982 Aug;32(8):898-901. doi: 10.1212/wnl.32.8.898.
2
Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.伴有细胞色素c氧化酶和肉碱缺乏的致死性脂质贮积性肌病。对长期冷冻肌肉中细胞色素c氧化酶的细胞化学-精细结构联合鉴定的贡献。
Virchows Arch A Pathol Anat Histopathol. 1983;399(1):11-23. doi: 10.1007/BF00666215.
3
Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy.
J Neurol. 1982;227(4):201-7. doi: 10.1007/BF00313387.
4
Cytochrome c oxidase deficiency in infancy.婴儿期细胞色素c氧化酶缺乏症
Acta Neuropathol. 1989;77(3):267-75. doi: 10.1007/BF00687578.
5
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.致命性婴儿细胞色素c氧化酶缺乏症:肌肉中免疫可检测酶的减少。
Neurology. 1985 Jun;35(6):802-12. doi: 10.1212/wnl.35.6.802.
6
Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.由于细胞色素c氧化酶缺乏导致的致命性婴儿线粒体肌病和肾功能障碍。
Neurology. 1980 Aug;30(8):795-804. doi: 10.1212/wnl.30.8.795.
7
Cytochrome oxidase deficiency affecting the structure of the myofibre and the shape of mitochondrial cristae membrane.细胞色素氧化酶缺乏影响肌纤维结构和线粒体嵴膜的形状。
Clin Chim Acta. 1990 Nov 15;192(1):9-18. doi: 10.1016/0009-8981(90)90266-u.
8
Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency.
Brain Dev. 1988;10(4):223-30. doi: 10.1016/s0387-7604(88)80002-0.
9
[A case of myoclonus epilepsy associated with ragged-red fibers (MERRF) with cytochrome c oxidase deficiency].[一例伴有细胞色素c氧化酶缺乏的肌阵挛性癫痫伴破碎红纤维(MERRF)]
Rinsho Shinkeigaku. 1988 Aug;28(8):902-9.
10
Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study.线粒体脑肌病与细胞色素c氧化酶缺乏症:肌肉培养研究
Acta Neuropathol. 1991;82(4):286-94. doi: 10.1007/BF00308814.

引用本文的文献

1
Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.新生儿细胞色素c氧化酶缺乏症的临床和分子异质性
J Inherit Metab Dis. 1996;19(3):286-95. doi: 10.1007/BF01799256.
2
Renal involvement in mitochondrial cytopathies.线粒体细胞病中的肾脏受累情况。
Pediatr Nephrol. 1996 Jun;10(3):368-73. doi: 10.1007/BF00866789.
3
Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle.一名患有肾小管、脑和肌肉功能障碍的男孩缺乏细胞色素c氧化酶活性。
Eur J Pediatr. 1994 Apr;153(4):267-70. doi: 10.1007/BF01954517.
4
Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children.儿童肌肉细胞色素c氧化酶缺乏症的免疫组织化学分析
Histochem Cell Biol. 1995 Jan;103(1):59-68. doi: 10.1007/BF01464476.
5
Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.线粒体肌病:呼吸链与氧化磷酸化紊乱
J Inherit Metab Dis. 1984;7 Suppl 1:62-8. doi: 10.1007/BF03047377.
6
Mitochondrial myopathies. Clinical, morphological and biochemical aspects.线粒体肌病。临床、形态学及生化方面
Eur J Pediatr. 1984 Feb;141(4):192-207. doi: 10.1007/BF00572761.
7
Two siblings with cytochrome c oxidase deficiency.两名患有细胞色素c氧化酶缺乏症的兄弟姐妹。
J Inherit Metab Dis. 1983;6(3):121-2. doi: 10.1007/BF01800742.
8
Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency.一名患有细胞色素氧化酶缺乏症的松软婴儿肌肉中细胞色素b和aa3缺乏。
Eur J Pediatr. 1984 Jan;141(3):178-80. doi: 10.1007/BF00443221.
9
Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study.进行性眼外肌麻痹患者骨骼肌中细胞色素c氧化酶的局灶性缺乏。细胞化学-超微结构研究。
Virchows Arch A Pathol Anat Histopathol. 1983;402(1):61-71. doi: 10.1007/BF00695049.
10
Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome-c-oxidoreductase.伴有乳酸性酸中毒及肌肉琥珀酸细胞色素c氧化还原酶活性缺乏的线粒体肌病
Eur J Pediatr. 1984 Nov;143(1):67-71. doi: 10.1007/BF00442753.