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
    BJORKHEM, I
    FALK, O
    [J]. 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
    HANSON, RF
    SZCZEPANIKVANLEEUWEN, P
    WILLIAMS, GC
    GRABOWSKI, G
    SHARP, HL
    [J]. 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
    KAHLKE, W
    GOERLICH, R
    FEIST, D
    [J]. 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
    PARMENTIER, GG
    JANSSEN, GA
    EGGERMONT, EA
    EYSSEN, HJ
    [J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1979, 102 (01): : 173 - 183
  • [10] PATTERNS OF REFSUMS DISEASE - PHYTANIC ACID OXIDASE DEFICIENCY
    POULOS, A
    POLLARD, AC
    MITCHELL, JD
    WISE, G
    MORTIMER, G
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1984, 59 (03) : 222 - 229