HOMOCYSTINURIA DUE TO 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY REVEALED BY STROKE IN ADULT SIBLINGS

被引：60
|
作者：
VISY, JM
LECOZ, P
CHADEFAUX, B
FRESSINAUD, C
WOIMANT, F
MARQUET, J
ZITTOUN, J
VISY, J
VALLAT, JM
HAGUENAU, M
机构：
[1] HOP NECKER ENFANTS MALAD,SERV BIOCHIM,F-75730 PARIS 15,FRANCE
[2] HOP DUPUYTREN,SERV NEUROL,LIMOGES,FRANCE
[3] HOP HENRI MONDOR,SERV HEMATOL,F-94010 CRETEIL,FRANCE
[4] HOP BRIVE,SERV NEUROL,BRIVE,FRANCE
来源：
NEUROLOGY | 1991年 / 41卷 / 08期
关键词：
D O I：
10.1212/WNL.41.8.1313
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency and had severe recurrent strokes in adult life. Two of the patients died 1 year after clinical onset.
引用
收藏
页码：1313 / 1315
页数：3
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