VARIABILITY IN CLINICAL EXPRESSION OF MENKES SYNDROME

被引:30
作者
GERDES, AM
TONNESEN, T
PERGAMENT, E
SANDER, C
BAERLOCHER, KE
WARTHA, R
GUTTLER, F
HORN, N
机构
[1] MICHAEL REESE HOSP & MED CTR,DIV MED GENET,CHICAGO,IL 60616
[2] KINDERKLIN BADEN,D-7570 BADEN BADEN,FED REP GER
[3] KINDERKLIN ST GALLEN,CH-9006 ST GALLEN,SWITZERLAND
[4] UNIV HEIDELBERG,KINDERKLIN,D-6900 HEIDELBERG,FED REP GER
[5] UNIV COPENHAGEN,PROT LAB,DK-2200 COPENHAGEN N,DENMARK
关键词
D O I
10.1007/BF00445920
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:132 / 135
页数:4
相关论文
共 21 条
  • [1] MENKES DISEASE - CLINICAL, THERAPEUTIC AND BIOCHEMICAL-STUDIES
    BAERLOCHER, KE
    STEINMANN, B
    RAO, VH
    GITZELMANN, R
    HORN, N
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1983, 6 : 87 - 88
  • [2] Byers P H, 1976, Birth Defects Orig Artic Ser, V12, P293
  • [3] X-LINKED CUTIS LAXA - DEFECTIVE CROSS-LINK FORMATION IN COLLAGEN DUE TO DECREASED LYSYL OXIDASE ACTIVITY
    BYERS, PH
    SIEGEL, RC
    HOLBROOK, KA
    NARAYANAN, AS
    BORNSTEIN, P
    HALL, JG
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1980, 303 (02) : 61 - 65
  • [4] COLLIE WR, 1980, HAIR TRACE ELEMENTS, P197
  • [5] UROLOGIC ABNORMALITIES IN MENKES SYNDROME
    DALY, WJ
    RABINOVITCH, HH
    [J]. JOURNAL OF UROLOGY, 1981, 126 (02) : 262 - 264
  • [6] DANKS D, 1983, METABOLIC BASIS INHE, P1261
  • [7] FARRELLY C, 1984, J CAN ASSOC RADIOL, V35, P406
  • [8] COPPER INFUSION THERAPY IN TRICHOPOLIODYSTROPHY
    GROVER, WD
    SCRUTTON, MC
    [J]. JOURNAL OF PEDIATRICS, 1975, 86 (02) : 216 - 220
  • [9] AN X-LINKED DISEASE OF THE NERVOUS-SYSTEM WITH DISORDERED COPPER-METABOLISM AND FEATURES DIFFERING FROM MENKES DISEASE
    HAAS, RH
    CHIR, B
    ROBINSON, A
    EVANS, K
    LASCELLES, PT
    DUBOWITZ, V
    [J]. NEUROLOGY, 1981, 31 (07) : 852 - 859
  • [10] HARCKE HT, 1977, RADIOLOGY, V124, P459