Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

被引:509
作者
MacDermot, KD
Holmes, A
Miners, AH
机构
[1] Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England
[2] UCL, Sch Med, London NW3 2QG, England
关键词
D O I
10.1136/jmg.38.11.769
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:769 / 775
页数:7
相关论文
共 22 条
  • [1] NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN FEMALE CARRIERS
    BIRD, TD
    LAGUNOFF, D
    [J]. ANNALS OF NEUROLOGY, 1978, 4 (06) : 537 - 540
  • [2] Cantor WJ, 1998, CAN J CARDIOL, V14, P81
  • [3] Davies JP, 1996, EUR J HUM GENET, V4, P219
  • [4] Desnick R.J., 1995, The Metabolic and Molecular Bases of Inherited Disease, P2741
  • [5] POLYARTERITIS-NODOSA-LIKE NECROTIZING VASCULITIS IN FABRY DISEASE
    DRACHENBERG, CB
    SCHWEITZER, EJ
    BARTLETT, ST
    BEHRENS, MT
    PAPADIMITRIOU, JC
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (05) : 901 - 902
  • [6] DUBOST JJ, 1986, REV RHUM, V53, P525
  • [7] ECHOCARDIOGRAPHIC ABNORMALITIES AND DISEASE SEVERITY IN FABRYS-DISEASE
    GOLDMAN, ME
    CANTOR, R
    SCHWARTZ, MF
    BAKER, M
    DESNICK, RJ
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1986, 7 (05) : 1157 - 1161
  • [8] EARLY RENAL CHANGES IN HEMIZYGOUS AND HETEROZYGOUS PATIENTS WITH FABRYS-DISEASE
    GUBLER, MC
    LENOIR, G
    GRUNFELD, JP
    ULMANN, A
    DROZ, D
    HABIB, R
    [J]. KIDNEY INTERNATIONAL, 1978, 13 (03) : 223 - 235
  • [9] Happle R, 1987, Curr Probl Dermatol, V17, P5
  • [10] HOZUMI I, 1990, J LIPID RES, V31, P335