PRENATAL-DIAGNOSIS OF ZELLWEGER SYNDROME AND RELATED DISORDERS - IMPAIRED DEGRADATION OF PHYTANIC ACID

被引:18
作者
POULOS, A
VANCRUGTEN, C
SHARP, P
CAREY, WF
ROBERTSON, E
BECROFT, DMO
SAUDUBRAY, JM
POLLTHE, BT
CHRISTENSEN, E
BRANDT, N
机构
[1] UNIV COPENHAGEN,RIGSHOSP,DEPT CLIN GENET,DK-2100 COPENHAGEN,DENMARK
[2] AUCKLAND HOSP,DEPT PATHOL,GRAFTON AUCKLAND 1,NEW ZEALAND
[3] HOP ENFANTS MALADES,GENET CLIN,INSERM,U12,F-75743 PARIS,FRANCE
关键词
D O I
10.1007/BF02429053
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:507 / 510
页数:4
相关论文
共 23 条
[1]   ADRENOMYELONEUROPATHY - CLINICAL AND BIOCHEMICAL-DIAGNOSIS [J].
BERKOVIC, SF ;
ZAJAC, JD ;
WARBURTON, DJ ;
MERORY, JR ;
FELLENBERG, AJ ;
POULOS, A ;
POLLARD, AC .
AUSTRALIAN AND NEW ZEALAND JOURNAL OF MEDICINE, 1983, 13 (06) :594-600
[2]  
BROWN FR, 1982, JOHNS HOPKINS MED J, V151, P344
[3]   PRENATAL-DIAGNOSIS OF LYSOSOMAL STORAGE DISEASES - REVIEW OF EXPERIENCE IN 145 PATIENT REFERRALS OVER A PERIOD OF 8 YEARS [J].
CAREY, WF ;
HOPWOOD, JJ ;
POULOS, A ;
PETERSONS, D ;
NELSON, PV ;
MULLER, V ;
HARRISON, R ;
POLLARD, AC .
MEDICAL JOURNAL OF AUSTRALIA, 1984, 140 (04) :203-208
[4]  
DANKS DM, 1975, J PEDIATR, V86, P328
[5]   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
[6]   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
[7]   CHROMOSOME ANALYSIS OF 1ST TRIMESTER CHORIONIC VILLUS BIOPSIES PREPARED BY A MACERATION TECHNIQUE [J].
HEATON, DE ;
CZEPULKOWSKI, BH ;
HORWELL, DH ;
COLEMAN, DV .
PRENATAL DIAGNOSIS, 1984, 4 (04) :279-287
[8]   SEVERE PLASMALOGEN DEFICIENCY IN TISSUES OF INFANTS WITHOUT PEROXISOMES (ZELLWEGER SYNDROME) [J].
HEYMANS, HSA ;
SCHUTGENS, RBH ;
TAN, R ;
VANDENBOSCH, H ;
BORST, P .
NATURE, 1983, 306 (5938) :69-70
[9]   THE CEREBROHEPATORENAL SYNDROME OF ZELLWEGER, MORPHOLOGIC AND METABOLIC ASPECTS [J].
KELLEY, RI .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (04) :503-517
[10]   THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME - INCREASED LEVELS AND IMPAIRED DEGRADATION OF VERY-LONG-CHAIN FATTY-ACIDS AND THEIR USE IN PRENATAL-DIAGNOSIS [J].
MOSER, AE ;
SINGH, I ;
BROWN, FR ;
SOLISH, GI ;
KELLEY, RI ;
BENKE, PJ ;
MOSER, HW .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 310 (18) :1141-1146