THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME - AN IMPROVED METHOD FOR THE BIOCHEMICAL-DIAGNOSIS AND ITS POTENTIAL VALUE FOR PRENATAL DETECTION

被引:78
作者
ROSCHER, A
MOLZER, B
BERNHEIMER, H
STOCKLER, S
MUTZ, I
PALTAUF, F
机构
[1] VIENNA UNIV,GRAZ NEUROL INST,A-1010 VIENNA,AUSTRIA
[2] GRAZ TECH UNIV,DEPT BIOCHEM,A-8010 GRAZ,AUSTRIA
关键词
D O I
10.1203/00006450-198509000-00013
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:930 / 933
页数:4
相关论文
共 26 条
[1]  
BJORKHEM I, 1984, LANCET, V1, P1234
[2]  
BOWEN P, 1964, B JOHNS HOPKINS HOSP, V114, P402
[3]  
BROWN FR, 1982, JOHNS HOPKINS MED J, V151, P344
[4]   DEFICIENCY OF ENZYMES CATALYZING THE BIOSYNTHESIS OF GLYCEROL ETHER LIPIDS IN ZELLWEGER SYNDROME - A NEW CATEGORY OF METABOLIC DISEASE INVOLVING THE ABSENCE OF PEROXISOMES [J].
DATTA, NS ;
WILSON, GN ;
HAJRA, AK .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (17) :1080-1083
[5]  
FOLCH J, 1957, J BIOL CHEM, V226, P497
[6]   PEROXISOMAL AND MITOCHONDRIAL DEFECTS IN CEREBRO-HEPATO-RENAL SYNDROME [J].
GOLDFISCHER, S ;
MOORE, CL ;
JOHNSON, AB ;
SPIRO, AJ ;
VALSAMIS, MP ;
WISNIEWSKI, HK ;
RITCH, RH ;
NORTON, WT ;
RAPIN, I ;
GARTNER, LM .
SCIENCE, 1973, 182 (4107) :62-64
[7]  
GUSTAFSSON J, 1983, CLIN GENET, V24, P313
[8]  
HAJRA AK, 1979, J BIOL CHEM, V254, P896
[9]  
HAJRA AK, 1984, ETHER PHOSPHOLIPIDS, P85
[10]   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