HYPERKETOTIC STATES DUE TO INHERITED DEFECTS OF KETOLYSIS

被引:40
作者
SAUDUBRAY, JM
SPECOLA, N
MIDDLETON, B
LOMBES, A
BONNEFONT, JP
JAKOBS, C
VASSAULT, A
CHARPENTIER, C
DAY, R
机构
[1] HOP NECKER ENFANTS MALAD,DEPT INVEST METAB,F-75743 PARIS 15,FRANCE
[2] FREE UNIV AMSTERDAM,ACAD ZIEKENHUIS,1007 MC AMSTERDAM,NETHERLANDS
[3] UNIV NOTTINGHAM,SCH MED,NOTTINGHAM NG7 2RD,ENGLAND
关键词
D O I
10.1159/000469194
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:80 / 90
页数:11
相关论文
共 29 条
[1]   BIOCHEMICAL INVESTIGATIONS ON A PATIENT WITH A DEFECT IN CYTOSOLIC ACETOACETYL-COA THIOLASE, ASSOCIATED WITH MENTAL-RETARDATION [J].
BENNETT, MJ ;
HOSKING, GP ;
SMITH, MF ;
GRAY, RGF ;
MIDDLETON, B .
JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (03) :125-128
[2]  
DAUM RS, 1971, LANCET, V2, P1289
[3]   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
[4]  
DEGROOT CJ, 1977, PEDIAT RES, V11, P112
[5]  
DEKLERCK JBC, 1986, BETA KETOTHIOLASE DE
[6]  
Gadek JECR, 1983, METABOLIC BASIS INHE
[7]   DEFECT IN L-ISOLEUCINE METABOLISM ASSOCIATED WITH ALPHA-METHYL-BETA-HYDROXYBUTYRIC AND ALPHA-METHYLACETOACETIC ACIDURIA - QUANTITATIVE INVIVO AND INVITRO STUDIES [J].
GOMPERTZ, D ;
SAUDUBRAY, JM ;
CHARPENTIER, C ;
BARTLETT, K ;
GOODEY, PA ;
DRAFFAN, GH .
CLINICA CHIMICA ACTA, 1974, 57 (03) :269-281
[8]   VARIANT FORM OF 2-METHYL-3-HYDROXYBUTYRIC AND 2-METHYLACETOACETIC ACIDURIA [J].
HALVORSEN, S ;
STOKKE, O ;
JELLUM, E .
ACTA PAEDIATRICA SCANDINAVICA, 1979, 68 (01) :123-128
[9]  
HARTLAGE P, 1986, BIOCH MED METAB BIOL, V37, P198
[10]  
HILLMAN RE, 1974, PEDIATRICS, V53, P221