LACTICACIDEMIA DUE TO PYRUVATE-DEHYDROGENASE DEFICIENCY, WITH EVIDENCE OF PROTEIN POLYMORPHISM IN THE ALPHA-SUBUNIT OF THE ENZYME

被引：34

作者：

MCKAY, N

PETROVABENEDICT, R

THOENE, J

BERGEN, B

WILSON, W

ROBINSON, B

机构：

[1] HOSP SICK CHILDREN,RES INST,555 UNIV AVE,TORONTO M5G 1X8,ONTARIO,CANADA

[2] UNIV TORONTO,DEPT PEDIAT,TORONTO M5S 1A1,ONTARIO,CANADA

[3] UNIV TORONTO,DEPT BIOCHEM,TORONTO M5S 1A1,ONTARIO,CANADA

[4] UNIV MICHIGAN,CS MOTT CHILDRENS HOSP,DEPT PEDIAT,ANN ARBOR,MI 48109

[5] UNIV MINNESOTA,DEPT PEDIAT,MINNEAPOLIS,MN 55455

[6] UNIV VIRGINIA,MED CTR,DEPT PEDIAT,CHARLOTTESVILLE,VA 22903

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1986年 / 144卷 / 05期

关键词：

D O I：

10.1007/BF00441736

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：445 / 450

页数：6

共 50 条

[1] CHRONIC ACIDEMIA DUE TO A PYRUVATE-DEHYDROGENASE DEFICIENCY IN THE PYRUVATE-DEHYDROGENASE COMPLEX, WITH EVIDENCE OF ABNORMALITIES OF THE ALPHA-SUBUNIT AND BETA-SUBUNIT OF THE ENZYME
KOIKE, K
URATA, Y
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[2] CHRONIC ACIDEMIA DUE TO A PYRUVATE-DEHYDROGENASE DEFICIENCY IN THE PYRUVATE-DEHYDROGENASE COMPLEX, WITH EVIDENCE OF ABNORMALITIES OF THE ALPHA-SUBUNIT AND BETA-SUBUNIT OF THE ENZYME
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[3] PYRUVATE-DEHYDROGENASE DEFICIENCY DUE TO A MUTATION OF THE E1 ALPHA SUBUNIT
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[5] LACTATE ACIDOSIS IN THE NEWBORN DUE TO DEFICIENCY OF THE E-3 SUBUNIT OF PYRUVATE-DEHYDROGENASE ENZYME
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[6] PYRUVATE-DEHYDROGENASE DEFICIENCY CAUSED BY A 4-NUCLEOTIDE INSERTION IN THE E(1)ALPHA-SUBUNIT GENE
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[7] A MUTATION IN THE E1-ALPHA SUBUNIT OF PYRUVATE-DEHYDROGENASE ASSOCIATED WITH VARIABLE EXPRESSION OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
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[8] NUCLEOTIDE AND DEDUCED AMINO-ACID SEQUENCE OF THE ALPHA-SUBUNIT OF YEAST PYRUVATE-DEHYDROGENASE
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[9] CHARACTERIZATION AND NUCLEOTIDE-SEQUENCE OF THE GENE ENCODING THE HUMAN PYRUVATE-DEHYDROGENASE ALPHA-SUBUNIT
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[10] MUTATIONS IN THE X-LINKED E1-ALPHA SUBUNIT OF PYRUVATE-DEHYDROGENASE LEADING TO DEFICIENCY OF THE PYRUVATE-DEHYDROGENASE COMPLEX
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