ISOLATED BIOTIN-RESISTANT 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY IN 2 SIBS

被引：36

作者：

BEEMER, FA ^{[1
]}

BARTLETT, K ^{[1
]}

DURAN, M ^{[1
]}

GHNEIM, HK ^{[1
]}

WADMAN, SK ^{[1
]}

BRUINVIS, L ^{[1
]}

KETTING, D ^{[1
]}

机构：

[1] ROYAL VICTORIA INFIRM,DEPT CLIN BIOCHEM,NEWCASTLE TYNE NE1 4LP,TYNE & WEAR,ENGLAND

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1982年 / 138卷 / 04期

关键词：

D O I：

10.1007/BF00442517

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

收藏

页码：351 / 354

页数：4

相关论文

共 18 条

[1] STUDIES ON CULTURED FIBROBLASTS FROM PATIENTS WITH DEFECTS OF BIOTIN-DEPENDENT CARBOXYLATION
BARTLETT, K
NG, H
DALE, G
GREEN, A
LEONARD, JV
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1981, 4 (04) : 183 - 189
[2] SPECIFICITY OF GLYCINE-N-ACYLASE AND ACYLGLYCINE EXCRETION IN ORGANICACIDAEMIAS
BARTLETT, K
GOMPERTZ, D
[J]. BIOCHEMICAL MEDICINE, 1974, 10 (01): : 15 - 23
[3] ELDJARN L, 1970, LANCET, V2, P521
[4] Eveleth PB., 1976, WORLDWIDE VARIATION
[5] DEFICIENT ACETYL COA CARBOXYLASE ACTIVITY IN MULTIPLE CARBOXYLASE DEFICIENCY
FELDMAN, GL
WOLF, B
[J]. CLINICA CHIMICA ACTA, 1981, 111 (2-3) : 147 - 151
[6] MASSIVE EXCRETION OF 2-OXOGLUTARIC ACID AND 3-HYDROXYISOVALERIC ACID IN A PATIENT WITH A DEFICIENCY OF 3-METHYLCROTONYL-COA CARBOXYLASE
FINNIE, MDA
COTTRALL, K
SEAKINS, JWT
SNEDDEN, W
[J]. CLINICA CHIMICA ACTA, 1976, 73 (03) : 513 - 519
[7] 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
[8] GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC, P49
[9] GAS-CHROMATOGRAPHY OF URINARY N-PHENYLACETYLGLUTAMINE
KAMERLING, JP
BROUWER, M
KETTING, D
WADMAN, SK
[J]. JOURNAL OF CHROMATOGRAPHY, 1979, 164 (02): : 217 - 221
[10] ORGANIC ACIDURIA
KEETON, BR
MOOSA, A
[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1976, 51 (08) : 636 - 638