REFSUMS DISEASE, ADRENOLEUKODYSTROPHY, AND THE ZELLWEGER SYNDROME

被引:58
作者
STOKKE, O
SKREDE, S
EK, J
BJORKHEM, I
机构
[1] UNIV OSLO,RIKSHOSP,PAEDIAT RES INST,OSLO,NORWAY
[2] UNIV STOCKHOLM,KAROLINSKA INST,HUDDINGE UNIV HOSP,RES CTR,S-10691 STOCKHOLM,SWEDEN
[3] UNIV STOCKHOLM,KAROLINSKA INST,HUDDINGE HOSP,DEPT CLIN CHEM,S-10691 STOCKHOLM,SWEDEN
关键词
D O I
10.3109/00365518409083839
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
收藏
页码:463 / 464
页数:2
相关论文
共 13 条
[1]   ASSAY OF THE MAJOR BILE-ACIDS IN SERUM BY ISOTOPE-DILUTION MASS-SPECTROMETRY [J].
BJORKHEM, I ;
FALK, O .
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 1983, 43 (02) :163-170
[2]  
BOLTSHAUSER E, 1982, EUR J PEDIATR, V139, P317
[3]  
BROWN FR, 1982, JOHNS HOPKINS MED J, V151, P344
[4]   DEFECTS OF BILE-ACID SYNTHESIS IN ZELLWEGER SYNDROME [J].
HANSON, RF ;
SZCZEPANIKVANLEEUWEN, P ;
WILLIAMS, GC ;
GRABOWSKI, G ;
SHARP, HL .
SCIENCE, 1979, 203 (4385) :1107-1108
[5]  
JANSSEN G, 1982, J LIPID RES, V23, P456
[6]   INCREASED CONCENTRATION OF PHYTANIC ACID IN PLASMA AND LIVER OF AN INFANT WITH CEREBRAL DAMAGE OF UNKNOWN ETIOLOGY [J].
KAHLKE, W ;
GOERLICH, R ;
FEIST, D .
KLINISCHE WOCHENSCHRIFT, 1974, 52 (13) :651-653
[7]  
KASE F, 1983, J LIPID RES, V24, P1560
[8]  
MATHIS RK, 1980, GASTROENTEROLOGY, V79, P1311
[9]   C27-BILE ACIDS IN INFANTS WITH COPROSTANIC ACIDEMIA AND OCCURRENCE OF A 3-ALPHA, 7-ALPHA, 12-ALPHA-TRIHYDROXY-5-BETA-C29 DICARBOXYLIC BILE-ACID AS A MAJOR COMPONENT IN THEIR SERUM [J].
PARMENTIER, GG ;
JANSSEN, GA ;
EGGERMONT, EA ;
EYSSEN, HJ .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1979, 102 (01) :173-183
[10]   PATTERNS OF REFSUMS DISEASE - PHYTANIC ACID OXIDASE DEFICIENCY [J].
POULOS, A ;
POLLARD, AC ;
MITCHELL, JD ;
WISE, G ;
MORTIMER, G .
ARCHIVES OF DISEASE IN CHILDHOOD, 1984, 59 (03) :222-229