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

页码：1313 / 1315

页数：3

共 10 条

[1]

CHADEFAUX B, 1989, CLIN CHEM, V35, P2002

[2] HOMOCYSTINURIA - EVIDENCE FOR 3 DISTINCT CLASSES OF CYSTATHIONINE BETA-SYNTHASE MUTANTS IN CULTURED FIBROBLASTS [J].