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

[21] EVIDENCE THAT RAT-LIVER PYRUVATE-DEHYDROGENASE KINASE ACTIVATOR PROTEIN IS A PYRUVATE-DEHYDROGENASE KINASE
MISTRY, SC
PRIESTMAN, DA
KERBEY, AL
RANDLE, PJ
BIOCHEMICAL JOURNAL, 1991, 275 : 775 - 779
[22] PYRUVATE-DEHYDROGENASE DEFICIENCY DUE TO A 20-BP DELETION IN EXON-II OF THE PYRUVATE-DEHYDROGENASE (PDH) E1-ALPHA GENE
CHUN, K
MACKAY, N
PETROVABENEDICT, R
ROBINSON, BH
AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (02) : 414 - 420
[23] DEFECTIVE GENE IN LACTIC-ACIDOSIS - ABNORMAL PYRUVATE-DEHYDROGENASE EL ALPHA-SUBUNIT CAUSED BY A FRAME SHIFT
ENDO, H
HASEGAWA, K
NARISAWA, K
TADA, K
KAGAWA, Y
OHTA, S
AMERICAN JOURNAL OF HUMAN GENETICS, 1989, 44 (03) : 358 - 364
[24] BIOCHEMICAL BASIS OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY - POLYPEPTIDE HETEROGENEITY OF E1-ALPHA SUBUNIT
KITANO, A
ENDO, F
MATSUDA, I
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1989, 573 : 461 - 462
[25] BIOCHEMICAL BASIS OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY - POLYPEPTIDE HETEROGENEITY OF E1-ALPHA SUBUNIT
KITANO, A
ENDO, F
MATSUDA, I
ALPHA-KETO ACID DEHYDROGENASE COMPLEXES : ORGANIZATION, REGULATION, AND BIOMEDICAL RAMIFICATIONS: A TRIBUTE TO LESTER J REED, 1989, 573 : 461 - 462
[26] IDENTIFICATION OF A GENE FOR THE PYRUVATE DEHYDROGENASE-E1-ALPHA SUBUNIT WITH A DELETION OF 4 NUCLEOTIDES FROM A PATIENT WITH PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
ENDO, H
HASEGAWA, K
NARISAWA, K
TADA, K
KAGAWA, Y
OHTA, S
ALPHA-KETO ACID DEHYDROGENASE COMPLEXES : ORGANIZATION, REGULATION, AND BIOMEDICAL RAMIFICATIONS: A TRIBUTE TO LESTER J REED, 1989, 573 : 458 - 460
[27] IDENTIFICATION OF A GENE FOR THE PYRUVATE DEHYDROGENASE-E1-ALPHA SUBUNIT WITH A DELETION OF 4 NUCLEOTIDES FROM A PATIENT WITH PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
ENDO, H
HASEGAWA, K
NARISAWA, K
TADA, K
KAGAWA, Y
OHTA, S
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1989, 573 : 458 - 460
[28] MULTIPLE PROTEIN-BINDING DOMAINS AND FUNCTIONAL CIS-ELEMENTS IN THE 5'-FLANKING REGION OF THE HUMAN PYRUVATE-DEHYDROGENASE ALPHA-SUBUNIT GENE
CHANG, M
NAIK, S
JOHANNING, GL
HO, L
PATEL, MS
BIOCHEMISTRY, 1993, 32 (16) : 4263 - 4269
[29] APPARENT IDENTITY OF ALPHA-SUBUNIT OF PYRUVATE-DEHYDROGENASE AND THE PROTEIN PHOSPHORYLATED IN THE PRESENCE OF GLUTAMATE IN P2-FRACTIONS OF RAT CEREBRAL-CORTEX
DENNIG, G
SIEGHART, W
JOURNAL OF NEURAL TRANSMISSION, 1984, 59 (02) : 119 - 132
[30] SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY (LEIGH) DUE TO PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
SIEMES, H
GOEBEL, HH
SENGERS, RCA
RUITENBEEK, W
TRIJBELS, JMF
MONATSSCHRIFT KINDERHEILKUNDE, 1987, 135 (12) : 821 - 826

← 1 2 3 4 5 →