COMBINED DEFECT OF 3 MITOCHONDRIAL CARBOXYLASES PRESENTING AS BIOTIN-RESPONSIVE 3-METHYLCROTONYL GLYCINURIA AND 3-HYDROXYISOVALERIC ACIDURIA

被引：32

作者：

BARTLETT, K ^{[1
]}

NG, H ^{[1
]}

LEONARD, JV ^{[1
]}

机构：

[1] INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND

来源：

CLINICA CHIMICA ACTA | 1980年 / 100卷 / 02期

关键词：

D O I：

10.1016/0009-8981(80)90081-9

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

收藏

页码：183 / 186

页数：4

相关论文

共 10 条

[1] BARNES ND, 1970, LANCET, V2, P244
[2] BARTLETT K, 1976, LANCET, V2, P804
[3] CHILD WITH A DEFECT IN LEUCINE METABOLISM ASSOCIATED WITH BETA-HYDROXYISOVALERIC ACIDURIA AND BETA-METHYLCROTONYLGLYCINURIA
GOMPERTZ, D
BARTLETT, K
BLAIR, D
STERN, CMM
[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1973, 48 (12) : 975 - 977
[4] GOMPERTZ D, 1971, LANCET, V2, P22
[5] GOMPERTZ D, 1970, LANCET, V1, P1140
[6] EVIDENCE FOR ENZYMIC DEFECT IN BETA-METHYLCROTONYLGLYCINURIA
GOMPERTZ, D
GOODEY, PA
BARTLETT, K
[J]. FEBS LETTERS, 1973, 32 (01) : 13 - 14
[7] A NEW FLUOROMETRIC METHOD FOR RNA AND DNA DETERMINATION
LEPECQ, JB
PAOLETTI, C
[J]. ANALYTICAL BIOCHEMISTRY, 1966, 17 (01) : 100 - +
[8] LOWRY OH, 1951, J BIOL CHEM, V193, P265
[9] THE PREPARATION OF S-SUCCINYL COENZYME-A
SIMON, EJ
SHEMIN, D
[J]. JOURNAL OF THE AMERICAN CHEMICAL SOCIETY, 1953, 75 (10) : 2520 - 2520
[10] DEFICIENCY OF PROPIONYL-COA CARBOXYLASE AND METHYLCROTONYL-COA CARBOXYLASE IN A PATIENT WITH METHYLCROTONYLGLYCINURIA
WEYLER, W
SWEETMAN, L
MAGGIO, DC
NYHAN, WL
[J]. CLINICA CHIMICA ACTA, 1977, 76 (03) : 321 - 328