BETA-KETOTHIOLASE DEFICIENCY WITH FAVORABLE EVOLUTION

被引:6
作者
SABETTA, G
BACHMANN, C
GIARDINI, O
CASTRO, M
GAMBARARA, M
VICI, CD
BARTLETT, K
MIDDLETON, B
机构
[1] UNIV LA SAPIENZA,PEDIAT CLIN,I-00100 ROMA,ITALY
[2] UNIV NEWCASTLE TYNE,ROYAL VICTORIA INFIRM,DEPT CHILD HLTH CLIN BIOCHEM,NEWCASTLE TYNE NE2 H44,ENGLAND
[3] UNIV BERN,INSELSPITAL,DEPT CLIN CHEM,CH-3010 BERN,SWITZERLAND
[4] UNIV NOTTINGHAM,SCH MED,DEPT BIOCHEM,NOTTINGHAM NG7 2RD,ENGLAND
关键词
D O I
10.1007/BF01799988
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:405 / 406
页数:2
相关论文
共 3 条
[1]  
BACHMANN C, 1984, J INHERIT METAB DIS, V7, P126
[2]   INHERITED DISORDER OF ISOLEUCINE CATABOLISM CAUSING ACCUMULATION OF ALPHA-METHYLACETOACETATE AND ALPHA-METHYL-BETA-HYDROXYBUTYRATE, AND INTERMITTENT METABOLIC-ACIDOSIS [J].
DAUM, RS ;
SCRIVER, CR ;
MAMER, OA ;
DELVIN, E ;
LAMM, P ;
GOLDMAN, H .
PEDIATRIC RESEARCH, 1973, 7 (03) :149-160
[3]   THE SYNTHESIS AND CHARACTERIZATION OF 2-METHYLACETOACETYL COENZYME-A AND ITS USE IN THE IDENTIFICATION OF THE SITE OF THE DEFECT IN 2-METHYLACETOACETIC AND 2-METHYL-3-HYDROXYBUTYRIC ACIDURIA [J].
MIDDLETON, B ;
BARTLETT, K .
CLINICA CHIMICA ACTA, 1983, 128 (2-3) :291-305