3-METHYLGLUTACONIC ACIDURIA - REPORT ON A SIBSHIP WITH INFANTILE PROGRESSIVE ENCEPHALOPATHY

被引:26
作者
GRETER, J
HAGBERG, B
STEEN, G
SODERHJELM, U
机构
[1] UNIV GOTHENBURG,SAHLGRENS HOSP,DEPT CLIN CHEM,S-41345 GOTHENBURG,SWEDEN
[2] UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-40033 GOTHENBURG 33,SWEDEN
[3] OVRE NORRLIDENS HOSP,SUNDSVALL,SWEDEN
关键词
D O I
10.1007/BF00441354
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:231 / 238
页数:8
相关论文
共 14 条
[1]   DICROTALINE - THE STRUCTURE AND SYNTHESIS OF DICROTALIC ACID [J].
ADAMS, R ;
VANDUUREN, BL .
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY, 1953, 75 (10) :2377-2379
[2]  
BJORKMAN L, 1976, CLIN CHEM, V22, P49
[3]   METHOD FOR DETERMINATION OF VOLATILE ORGANIC-ACIDS IN AQUEOUS-SOLUTIONS AND URINE, AND RESULTS OBTAINED IN PROPIONIC ACIDEMIA, BETA-METHYLCROTONYLGLYCINURIA AND METHYLMALONIC ACIDURIA [J].
CHALMERS, RA ;
BICKLE, S ;
WATTS, RWE .
CLINICA CHIMICA ACTA, 1974, 52 (01) :31-41
[4]   CARBOXYLATION OF BETA-METHYLCROTONYL COENZYME-A BY A PURIFIED ENZYME FROM CHICKEN LIVER [J].
DELCAMPILLOCAMPBELL, A ;
DEKKER, EE ;
COON, MJ .
BIOCHIMICA ET BIOPHYSICA ACTA, 1959, 31 (01) :290-292
[5]  
FAULL K, 1976, NEW ENGL J MED, V294, P1013
[6]   URINARY ORGANIC-ACID PROFILE ASSOCIATED WITH 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA [J].
FAULL, KF ;
BOLTON, PD ;
HALPERN, B ;
HAMMOND, J ;
DANKS, DM .
CLINICA CHIMICA ACTA, 1976, 73 (03) :553-559
[7]   GLUTARIC ACIDURIA - NEW DISORDER OF AMINO-ACID METABOLISM [J].
GOODMAN, SI ;
MARKEY, SP ;
MOE, PG ;
MILES, BS ;
TENG, CC .
BIOCHEMICAL MEDICINE, 1975, 12 (01) :12-21
[8]   PROFILING OF HUMAN-BODY FLUIDS IN HEALTHY AND DISEASED STATES USING GAS-CHROMATOGRAPHY AND MASS-SPECTROMETRY, WITH SPECIAL REFERENCE TO ORGANIC-ACIDS [J].
JELLUM, E .
JOURNAL OF CHROMATOGRAPHY, 1977, 143 (05) :427-462
[9]   ORGANIC ACIDURIA [J].
KEETON, BR ;
MOOSA, A .
ARCHIVES OF DISEASE IN CHILDHOOD, 1976, 51 (08) :636-638
[10]   INTERMITTENTLY PROGRESSIVE DYSKINETIC SYNDROME IN GLUTARIC ACIDURIA [J].
KYLLERMAN, M ;
STEEN, G .
NEUROPADIATRIE, 1977, 8 (04) :397-404