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Immunochemical evidence of pyruvate dehydrogenase (E1) deficiency.

作者信息

Kitano A, Akaboshi I, Endo F, Matsuda I, Okano Y, Hase Y, Nagao Y, Kamoshita S, Miyabayashi S, Narisawa K

机构信息

Department of Pediatrics, Kumamoto University Medical School, Japan.

出版信息

J Inherit Metab Dis. 1988;11(3):329-32. doi: 10.1007/BF01800386.

DOI:10.1007/BF01800386
PMID:3148083
Abstract
摘要

相似文献

1
Immunochemical evidence of pyruvate dehydrogenase (E1) deficiency.丙酮酸脱氢酶（E1）缺乏的免疫化学证据。
J Inherit Metab Dis. 1988;11(3):329-32. doi: 10.1007/BF01800386.
2
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.
3
Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.新生儿丙酮酸脱氢酶缺乏症伴硫辛酸反应性乳酸性酸中毒和高氨血症。
Eur J Pediatr. 1989 Apr;148(6):543-7. doi: 10.1007/BF00441554.
4
Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase.硫辛酸对一名丙酮酸脱氢酶、2-氧代戊二酸脱氢酶和支链酮酸脱氢酶活性缺陷患者的影响。
Pediatr Res. 1990 Jan;27(1):75-9. doi: 10.1203/00006450-199001000-00020.
5
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.丙酮酸脱氢酶复合体E1亚基缺乏所致的致死性乳酸性酸中毒
J Inherit Metab Dis. 1988;11(2):207-17. doi: 10.1007/BF01799876.
6
Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.利用磁共振成像对丙酮酸脱氢酶缺乏症进行产前诊断。
Prenat Diagn. 2001 Dec;21(12):1053-6. doi: 10.1002/pd.187.
7
Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.
J Inherit Metab Dis. 1989;12(2):97-107. doi: 10.1007/BF01800710.
8
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.硫胺素反应性丙酮酸脱氢酶复合物缺乏症中的复发性肌肉无力和共济失调。
J Child Neurol. 1997 Feb;12(2):141-4. doi: 10.1177/088307389701200212.
9
Pyruvate dehydrogenase complex deficiency with multiple minor anomalies.丙酮酸脱氢酶复合体缺乏症伴多种轻微异常。
Acta Paediatr Jpn. 1997 Apr;39(2):230-2. doi: 10.1111/j.1442-200x.1997.tb03588.x.
10
Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.一名新生儿乳酸血症患者丙酮酸脱氢酶复合物含硫辛酰基的X组分存在缺陷。
Pediatrics. 1996 Feb;97(2):267-72.

引用本文的文献

1
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.

本文引用的文献

1
Purification and immunochemical studies of pyruvate dehydrogenase complex from rat heart, and cell-free synthesis of lipoamide dehydrogenase, a component of the complex.大鼠心脏丙酮酸脱氢酶复合体的纯化及免疫化学研究，以及该复合体成分之一硫辛酰胺脱氢酶的无细胞合成。
Biochim Biophys Acta. 1983 Oct 13;741(1):86-93. doi: 10.1016/0167-4781(83)90013-1.
2
Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.正常和成纤维细胞缺陷型中的丙酮酸脱氢酶复合物活性
J Clin Invest. 1981 May;67(5):1463-71. doi: 10.1172/jci110176.
3
Cleavage of structural proteins during the assembly of the head of bacteriophage T4.
在噬菌体T4头部组装过程中结构蛋白的切割
Nature. 1970 Aug 15;227(5259):680-5. doi: 10.1038/227680a0.
4
Low immunogenicity of the common lipoamide dehydrogenase subunit (E3) of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multienzyme complexes.哺乳动物丙酮酸脱氢酶和2-氧代戊二酸脱氢酶多酶复合物常见的硫辛酰胺脱氢酶亚基（E3）的低免疫原性。
Biochem J. 1985 Mar 1;226(2):509-17. doi: 10.1042/bj2260509.
5
Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase.人丙酮酸脱氢酶正常形式和突变形式的免疫化学分析。
Biochem J. 1986 Oct 1;239(1):89-96. doi: 10.1042/bj2390089.
6
Systemic deficiency of the first component of the pyruvate dehydrogenase complex.丙酮酸脱氢酶复合体第一成分的全身性缺乏
Pediatr Res. 1987 Sep;22(3):312-8. doi: 10.1203/00006450-198709000-00015.
7
Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.丙酮酸脱氢酶复合体缺乏的人类成纤维细胞中丙酮酸脱氢酶成分的缺乏。免疫学鉴定。
J Clin Invest. 1986 Sep;78(3):844-7. doi: 10.1172/JCI112651.
8
The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.人丙酮酸脱氢酶复合体。E1α亚基cDNA克隆的分离、序列分析及mRNA的特性鉴定。
J Biol Chem. 1987 May 25;262(15):7398-403.
9
A mild procedure for the rapid release of cytoplasmic enzymes from cultured animal cells.一种从培养的动物细胞中快速释放细胞质酶的温和方法。
Anal Biochem. 1979 May;95(1):270-4. doi: 10.1016/0003-2697(79)90216-1.
10
Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.蛋白质从聚丙烯酰胺凝胶到硝酸纤维素膜的电泳转移：方法及一些应用
Proc Natl Acad Sci U S A. 1979 Sep;76(9):4350-4. doi: 10.1073/pnas.76.9.4350.