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Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient beta-oxidation in fibroblasts.

作者信息

Mooy P D, Giesberts M A, van Gelderen H H, Scholte H R, Luyt-Houwen I E, Przyrembel H, Blom W

出版信息

J Inherit Metab Dis. 1984;7 Suppl 2:101-2. doi: 10.1007/978-94-009-5612-4_25.

DOI:10.1007/978-94-009-5612-4_25
PMID:6434854
Abstract
摘要

相似文献

1
Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient beta-oxidation in fibroblasts.II型戊二酸尿症:分离的肌肉线粒体中的多种缺陷和成纤维细胞中β-氧化缺陷
J Inherit Metab Dis. 1984;7 Suppl 2:101-2. doi: 10.1007/978-94-009-5612-4_25.
2
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.培养的成纤维细胞中脂肪酸的氧化:用于检测和研究氧化缺陷的模型系统。
Pediatr Res. 1982 Oct;16(10):877-81. doi: 10.1203/00006450-198210000-00015.
3
Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts.II型戊二酸尿症:培养的皮肤成纤维细胞中底物氧化、酰基辅酶A脱氢酶和电子传递黄素蛋白的体外研究
Pediatr Res. 1980 Dec;14(12):1339-42. doi: 10.1203/00006450-198012000-00013.
4
Glutaric aciduria type I.I型戊二酸血症
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5
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.成人早期发病的核黄素反应性脂质贮积性肌病和II型戊二酸尿症。
Neurology. 1986 Mar;36(3):367-72. doi: 10.1212/wnl.36.3.367.
6
3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism.一名线粒体能量代谢紊乱患者的3-甲基戊二酸尿症
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7
A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein.戊二酸血症II型的一种新变体:电子传递黄素蛋白β亚基缺乏症
J Inherit Metab Dis. 1990;13(5):783-6. doi: 10.1007/BF01799588.
8
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.多种酰基辅酶A脱氢酶缺乏症,即II型戊二酸尿症和乙基丙二酸-己二酸尿症。成纤维细胞中的线粒体脂肪酸氧化、酰基辅酶A脱氢酶及电子传递黄素蛋白活性。
J Clin Invest. 1986 Jul;78(1):205-13. doi: 10.1172/JCI112553.
9
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.两名戊二酸血症II型患者中新发现的电子传递黄素蛋白缺乏症形式。
Pediatr Res. 1991 Jan;29(1):60-3. doi: 10.1203/00006450-199101000-00012.
10
Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.
J Inherit Metab Dis. 1984;7 Suppl 2:103-4. doi: 10.1007/978-94-009-5612-4_26.

引用本文的文献

1
Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.
Eur J Pediatr. 1984 Dec;143(2):92-5. doi: 10.1007/BF00445792.
2
Difficulties in assessing biochemical properties of abnormal muscle mitochondria.评估异常肌肉线粒体生化特性的困难。
J Inherit Metab Dis. 1985;8 Suppl 2:149-50. doi: 10.1007/BF01811503.
3
Riboflavin-responsive defects of beta-oxidation.核黄素反应性β氧化缺陷
J Inherit Metab Dis. 1985;8 Suppl 1:65-9. doi: 10.1007/BF01800662.
4
The biochemical basis of mitochondrial diseases.线粒体疾病的生化基础。
J Bioenerg Biomembr. 1988 Apr;20(2):161-91. doi: 10.1007/BF00768393.
5
The inborn errors of mitochondrial fatty acid oxidation.线粒体脂肪酸氧化的先天性代谢缺陷。
J Inherit Metab Dis. 1987;10 Suppl 1:159-200. doi: 10.1007/BF01812855.
6
Myopathy with abnormal mitochondria, transient low electron transport capacity in the respiratory chain, and absence of energy transduction at sites 1 and 2 in vitro.伴有线粒体异常的肌病,呼吸链中短暂的低电子传递能力,以及体外1和2位点的能量转导缺失。
J Neurol Neurosurg Psychiatry. 1986 Jun;49(6):645-50. doi: 10.1136/jnnp.49.6.645.
7
Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.氧化磷酸化缺陷。骨骼肌的生化研究及其他细胞中病变的表现。
J Inherit Metab Dis. 1987;10 Suppl 1:81-97. doi: 10.1007/BF01812849.