Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.
作者信息
Merinero B, Pérez-Cerdá C, Garcia M J, Gangoiti J, Font L M, Garcia Silva M T, Vianey-Saban C, Duran M, Ugarte M
机构信息
Dpto. Biología Molecular, Universidad Autónoma de Madrid, Spain.
出版信息
J Inherit Metab Dis. 1996;19(2):173-6. doi: 10.1007/BF01799422.
PMID:8739958
Abstract
摘要
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Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.线粒体极长链酰基辅酶A脱氢酶缺乏症，临床病程较轻。
J Inherit Metab Dis. 1996;19(2):173-6. doi: 10.1007/BF01799422.
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本文引用的文献
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A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.一种伴有线粒体极长链酰基辅酶A脱氢酶缺乏的新型疾病。
Biochem Biophys Res Commun. 1993 Mar 31;191(3):1369-72. doi: 10.1006/bbrc.1993.1368.
2
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.极长链酰基辅酶A脱氢酶缺乏症：成纤维细胞中线粒体脂肪酸氧化一种新的先天性代谢缺陷的鉴定。
Biochim Biophys Acta. 1993 Jan 22;1180(3):327-9. doi: 10.1016/0925-4439(93)90058-9.
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Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.人超长链酰基辅酶A脱氢酶的纯化及其在7例患者中的缺陷特征
J Clin Invest. 1995 Jun;95(6):2465-73. doi: 10.1172/JCI117947.
4
Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.
Eur J Pediatr. 1984 Aug;142(3):224-8. doi: 10.1007/BF00442456.
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An improved and simplified radioisotopic assay for the determination of free and esterified carnitine.一种用于测定游离和酯化肉碱的改进型简化放射性同位素测定法。
J Lipid Res. 1976 May;17(3):277-81.
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