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

被引：520

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

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 11期

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

页码：769 / 775

页数：7

共 22 条

[1] NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN FEMALE CARRIERS [J].

BIRD, TD ;

LAGUNOFF, D .

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 [J].

DRACHENBERG, CB ;

SCHWEITZER, EJ ;

BARTLETT, ST ;

BEHRENS, MT ;

PAPADIMITRIOU, JC .

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 [J].

GOLDMAN, ME ;

CANTOR, R ;

SCHWARTZ, MF ;

BAKER, M ;

DESNICK, RJ .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1986, 7 (05) :1157-1161

[8] EARLY RENAL CHANGES IN HEMIZYGOUS AND HETEROZYGOUS PATIENTS WITH FABRYS-DISEASE [J].

GUBLER, MC ;

LENOIR, G ;

GRUNFELD, JP ;

ULMANN, A ;

DROZ, D ;

HABIB, R .

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

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